ClinVar Miner

List of variants in gene COL6A1 reported as likely pathogenic for not provided

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.1693C>T (p.Arg565Ter) rs1304888945 0.00003
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1002+1G>C rs886043700
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.3(COL6A1):c.1042_1043dup (p.Pro349fs) rs2123473129
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.108_115del (p.Asp37fs) rs2123460152
NM_001848.3(COL6A1):c.1132G>C (p.Ala378Pro) rs1057518005
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1283G>C (p.Gly428Ala) rs2123475472
NM_001848.3(COL6A1):c.128A>C (p.Asp43Ala) rs786205555
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1761_1764dup (p.Pro589fs) rs1603593491
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.227+1G>A rs2123460317
NM_001848.3(COL6A1):c.2435-2A>G rs940473416
NM_001848.3(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.3(COL6A1):c.741C>A (p.Cys247Ter) rs1057522053
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg) rs762299598
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg) rs886042856
NM_001848.3(COL6A1):c.823G>C (p.Gly275Arg) rs1556425467
NM_001848.3(COL6A1):c.833G>A (p.Gly278Glu) rs886043106
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg) rs1057521152
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu) rs398123644
NM_001848.3(COL6A1):c.904-2A>G rs1057519174
NM_001848.3(COL6A1):c.904G>A (p.Gly302Arg) rs794727028
NM_001848.3(COL6A1):c.905G>T (p.Gly302Val) rs1556425566
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu) rs886042684
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp) rs886044231
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001848.3(COL6A1):c.957+2T>G
NM_001848.3(COL6A1):c.968G>A (p.Gly323Asp)

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