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: rs886042883
rs886042883
COL6A3
1.000 0.120 2 237359205 splice donor variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 13 2001 2016
dbSNP: rs397515332
rs397515332
COL6A3
1.000 0.120 2 237361138 missense variant C/G;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 5 1994 2017
dbSNP: rs886043737
rs886043737
COL6A3
1.000 0.120 2 237360158 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 5 1993 2013
dbSNP: rs886044252
rs886044252
COL6A3
1.000 0.120 2 237360150 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 5 1994 2013
dbSNP: rs886042883
rs886042883
COL6A3
1.000 0.120 2 237359205 splice donor variant C/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 4 2005 2017
dbSNP: rs1230578718
rs1230578718
COL6A3
1.000 0.120 2 237380914 splice donor variant C/A snv 7.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 2005 2010
dbSNP: rs1268762655
rs1268762655
COL6A3
1.000 0.120 2 237350173 missense variant C/T snv 7.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 1994 2013
dbSNP: rs1553553267
rs1553553267
COL6A3
1.000 0.120 2 237359235 splice acceptor variant TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- delins
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 2005 2010
dbSNP: rs1553553646
rs1553553646
COL6A3
1.000 0.120 2 237360140 missense variant C/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 1994 2013
dbSNP: rs1559225993
rs1559225993
COL6A3
1.000 0.120 2 237359252 splice acceptor variant T/C snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 2005 2010
dbSNP: rs886043919
rs886043919
COL6A3
0.925 0.160 2 237359361 splice donor variant C/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 3 2007 2013
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 2 2005 2009
dbSNP: rs1559234260
rs1559234260
COL6A3
1.000 0.120 2 237365697 splice donor variant C/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 1 2015 2015
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 1 2005 2005
dbSNP: rs886043919
rs886043919
COL6A3
0.925 0.160 2 237359361 splice donor variant C/A;T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 1 2008 2008
dbSNP: rs121434553
rs121434553
COL6A3
1.000 0.120 2 237367151 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 0
dbSNP: rs121434554
rs121434554
COL6A3
1.000 0.160 2 237381419 stop gained G/A snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs121434555
rs121434555
COL6A3
1.000 0.120 2 237367010 missense variant A/C snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 1.000 0 2010 2010
dbSNP: rs1553553313
rs1553553313
COL6A3
1.000 0.120 2 237359334 splice acceptor variant TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- del
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs1553561409
rs1553561409
COL6A3
1.000 0.120 2 237377222 stop gained G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs1559225974
rs1559225974
COL6A3
1.000 0.120 2 237359238 inframe deletion CCT/- delins
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs1559261557
rs1559261557
COL6A3
1.000 0.120 2 237381113 stop gained G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs398124126
rs398124126
COL6A3
0.882 0.160 2 237361120 splice donor variant C/T snv
CUI: C4225636
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs794727188
rs794727188
COL6A3
1.000 0.120 2 237360131 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.800 1.000 0 2010 2010
dbSNP: rs797044988
rs797044988
COL6A3
0.882 0.160 2 237359390 splice acceptor variant T/G snv
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0