Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 35 1997 2014
dbSNP: rs104894401
rs104894401
GJB2
0.851 0.120 13 20189154 missense variant C/T snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 14 2001 2015
dbSNP: rs80338940
rs80338940
GJB2
0.763 0.280 13 20192782 splice donor variant C/T snv 2.3E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 13 1999 2015
dbSNP: rs104894401
rs104894401
GJB2
0.851 0.120 13 20189154 missense variant C/T snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 12 1998 2015
dbSNP: rs111033253
rs111033253
GJB2
0.925 0.120 13 20189256 frameshift variant CTTGATGAACTTCC/- delins 1.5E-04
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 8 1999 2016
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 7 1997 2007
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		0.700 1.000 7 1997 2007
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.700 1.000 7 1997 2007
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.700 1.000 7 1997 2007
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 1.000 7 1997 2007
dbSNP: rs80338939
rs80338939
GJB2
0.732 0.280 13 20189547 frameshift variant C/-;CC delins 6.4E-03
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.700 1.000 7 1997 2007
dbSNP: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 5 2001 2014
dbSNP: rs1057517519
rs1057517519
GJB2
0.925 0.120 13 20189523 missense variant A/G snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 5 2001 2014
dbSNP: rs786204690
rs786204690
GJB2
1.000 0.120 13 20189174 stop gained G/T snv 7.0E-06
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 5 1999 2009
dbSNP: rs104894402
rs104894402
GJB2
0.882 0.200 13 20189359 missense variant G/A;C snv
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.800 1.000 2 1998 2009
dbSNP: rs1555341931
rs1555341931
GJB2
1.000 0.120 13 20189254 frameshift variant CC/T delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 2 2014 2015
dbSNP: rs1555341960
rs1555341960
GJB2
1.000 0.120 13 20189349 frameshift variant -/C delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 2 2007 2013
dbSNP: rs104894410
rs104894410
GJB2
0.807 0.320 13 20189407 missense variant C/G;T snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.700 1.000 1 2007 2007
dbSNP: rs1057517521
rs1057517521
GJB2
0.925 0.120 13 20189006 frameshift variant TG/- delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2005 2005
dbSNP: rs1057517521
rs1057517521
GJB2
0.925 0.120 13 20189006 frameshift variant TG/- delins
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 1 2005 2005
dbSNP: rs111033401
rs111033401
GJB2
1.000 0.120 13 20189573 stop gained C/T snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2009 2009
dbSNP: rs1555341794
rs1555341794
GJB2
1.000 0.120 13 20188937 frameshift variant A/- delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2012 2012
dbSNP: rs1555342014
rs1555342014
GJB2
1.000 0.120 13 20189571 frameshift variant C/- delins
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs28931593
rs28931593
GJB2
0.776 0.200 13 20189358 missense variant C/T snv 7.0E-06
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 1.000 1 2005 2005
dbSNP: rs769486081
rs769486081
GJB2
1.000 0.120 13 20189510 stop gained C/G;T snv
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.700 1.000 1 2005 2005