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: rs1005389790
rs1005389790
COL4A4
1.000 2 227101899 missense variant C/A;T snv
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1201925443
rs1201925443
COL4A4
1.000 2 227147413 stop gained C/A;T snv 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1203564054
rs1203564054
COL4A4
1.000 2 227094150 inframe deletion TGGTGCTCCAGGCAAGCC/- delins 1.2E-05 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1206142672
rs1206142672
COL4A4
1.000 2 227008067 frameshift variant GGG/-;GG;GGGG delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912858
rs121912858
COL4A4
1.000 2 227032253 missense variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 0 1994 2012
dbSNP: rs121912859
rs121912859
COL4A4
1.000 2 227032049 stop gained G/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912860
rs121912860
COL4A4
0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2003 2016
dbSNP: rs121912860
rs121912860
COL4A4
0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		0.800 1.000 0 1996 2003
dbSNP: rs121912861
rs121912861
COL4A4
0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1998 2015
dbSNP: rs121912861
rs121912861
COL4A4
0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912862
rs121912862
COL4A4
1.000 2 227007475 stop gained G/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1363277825
rs1363277825
COL4A4
1.000 2 227055999 missense variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1369097739
rs1369097739
COL4A4
1.000 2 227050133 splice acceptor variant T/A;C snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1396602090
rs1396602090
COL4A3 ; COL4A4
1.000 2 227164727 start lost A/C;T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1446915781
rs1446915781
COL4A4
1.000 2 227080531 missense variant C/G snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs1489351299
rs1489351299
COL4A4
1.000 2 227030449 stop gained G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs1553611876
rs1553611876
COL4A4
1.000 2 227007450 missense variant A/G snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553611909
rs1553611909
COL4A4
1.000 2 227007466 frameshift variant G/AA delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553611947
rs1553611947
COL4A4
1.000 2 227007495 stop gained G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553612309
rs1553612309
COL4A4
1.000 2 227008017 splice donor variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553612433
rs1553612433
COL4A4
1.000 2 227008114 frameshift variant CTCGCATACCGCACAGCGGC/- delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553612499
rs1553612499
COL4A4
1.000 2 227008144 frameshift variant GGCGG/- delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1553622675
rs1553622675
COL4A4
1.000 2 227025802 missense variant C/A snv
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1553624029
rs1553624029
COL4A4
1.000 2 227027920 missense variant C/T snv
CUI: C4746547
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1553624127
rs1553624127
COL4A4
1.000 2 227027977 frameshift variant -/TGGT delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 0