ClinVar Miner

List of variants in gene COL6A2 reported as uncertain significance for Collagen VI-related myopathy

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Total variants: 49
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HGVS dbSNP
NM_001849.3(COL6A2):c.*121C>A rs886057170
NM_001849.3(COL6A2):c.*139G>A rs774514501
NM_001849.3(COL6A2):c.*147C>T rs560095085
NM_001849.3(COL6A2):c.*202C>T rs886057171
NM_001849.3(COL6A2):c.*31C>T rs886057169
NM_001849.3(COL6A2):c.1013G>A (p.Arg338His) rs760872485
NM_001849.3(COL6A2):c.1105C>T (p.Gln369Ter) rs1568930865
NM_001849.3(COL6A2):c.116-11G>A rs886057166
NM_001849.3(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679
NM_001849.3(COL6A2):c.1359C>T (p.Arg453=) rs750842859
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1734+14C>T rs886057167
NM_001849.3(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.3(COL6A2):c.1770+1G>A rs752803039
NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) rs746339542
NM_001849.3(COL6A2):c.1962C>T (p.Ser654=) rs150253422
NM_001849.3(COL6A2):c.2016G>A (p.Glu672=) rs146323303
NM_001849.3(COL6A2):c.2134G>T (p.Asp712Tyr) rs375608173
NM_001849.3(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.3(COL6A2):c.2470G>A (p.Val824Met) rs758758266
NM_001849.3(COL6A2):c.2483C>T (p.Thr828Met) rs755782924
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
NM_001849.3(COL6A2):c.2697G>A (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162
NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) rs747184649
NM_001849.3(COL6A2):c.411G>A (p.Ala137=) rs528885146
NM_001849.3(COL6A2):c.791G>A (p.Arg264His) rs148029276
NM_001849.3(COL6A2):c.901-10C>T rs754039292
NM_001849.3(COL6A2):c.933A>T (p.Glu311Asp) rs370624136
NM_001849.4(COL6A2):c.*103G>A
NM_001849.4(COL6A2):c.*105C>G
NM_001849.4(COL6A2):c.*148G>A
NM_001849.4(COL6A2):c.*203G>A
NM_001849.4(COL6A2):c.*219C>T
NM_001849.4(COL6A2):c.*296A>G
NM_001849.4(COL6A2):c.-76T>C
NM_001849.4(COL6A2):c.1341T>C (p.Pro447=)
NM_001849.4(COL6A2):c.1396-11C>T
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)
NM_001849.4(COL6A2):c.1743C>T (p.Pro581=)
NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala)
NM_001849.4(COL6A2):c.1817-3del rs149954350
NM_001849.4(COL6A2):c.1886C>A (p.Thr629Asn)
NM_001849.4(COL6A2):c.2424C>T (p.Asp808=)
NM_001849.4(COL6A2):c.54C>G (p.Ile18Met)
NM_001849.4(COL6A2):c.714+13C>T
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)

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