ClinVar Miner

List of variants in gene COL6A1 reported as likely pathogenic

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Total variants: 41
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HGVS dbSNP
NM_001848.2(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.2(COL6A1):c.1021G>T (p.Gly341Cys) rs886043321
NM_001848.2(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.2(COL6A1):c.1132G>C (p.Ala378Pro) rs1057518005
NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala) rs786205555
NM_001848.2(COL6A1):c.1398+2T>G rs1569518481
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.2(COL6A1):c.1483C>T (p.Pro495Ser) rs1569518677
NM_001848.2(COL6A1):c.1575+1G>A
NM_001848.2(COL6A1):c.1576-1G>A
NM_001848.2(COL6A1):c.1576-2_1576-1delAG
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.2(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521
NM_001848.2(COL6A1):c.1823-1G>T rs1569519030
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.717+4A>G rs762867111
NM_001848.2(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.2(COL6A1):c.741C>A (p.Cys247Ter) rs1057522053
NM_001848.2(COL6A1):c.787G>T (p.Gly263Cys) rs1569517943
NM_001848.2(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.2(COL6A1):c.788G>T (p.Gly263Val)
NM_001848.2(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.2(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.2(COL6A1):c.823G>C (p.Gly275Arg) rs1556425467
NM_001848.2(COL6A1):c.824G>T (p.Gly275Val) rs1556425468
NM_001848.2(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) rs1556425474
NM_001848.2(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.2(COL6A1):c.878G>A (p.Gly293Glu)
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001848.2(COL6A1):c.904-39A>G rs1569518138
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.2(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.2(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.2(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.2(COL6A1):c.957_957+7del rs1556425687
NM_001848.2(COL6A1):c.958-2A>G rs1556425717

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