ClinVar Miner

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

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Total variants: 37
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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.*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.1599C>T (p.Arg533=) rs373635709
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.1817-3delC rs149954350
NM_001849.3(COL6A2):c.1817-8C>A rs750444649
NM_001849.3(COL6A2):c.1911C>T (p.Phe637=) rs746339542
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.2264C>T (p.Thr755Met) rs369954815
NM_001849.3(COL6A2):c.2423-9C>G rs368725753
NM_001849.3(COL6A2):c.2436G>A (p.Val812=) rs372745282
NM_001849.3(COL6A2):c.2523C>T (p.Ser841=) rs149697707
NM_001849.3(COL6A2):c.2566G>A (p.Val856Met) rs368160013
NM_001849.3(COL6A2):c.2575G>A (p.Val859Met) rs370446082
NM_001849.3(COL6A2):c.2591C>T (p.Thr864Met) rs200488881
NM_001849.3(COL6A2):c.2712G>A (p.Ala904=) rs139116075
NM_001849.3(COL6A2):c.2788C>T (p.Arg930Cys) rs886057168
NM_001849.3(COL6A2):c.2917G>A (p.Val973Met) rs145959270
NM_001849.3(COL6A2):c.2985C>T (p.Ala995=) rs752243349
NM_001849.3(COL6A2):c.2986G>A (p.Val996Met) rs142432514
NM_001849.3(COL6A2):c.3034G>A (p.Asp1012Asn) rs372431744
NM_001849.3(COL6A2):c.332C>T (p.Pro111Leu) rs747184649
NM_001849.3(COL6A2):c.537G>A (p.Arg179=) rs762450920
NM_001849.3(COL6A2):c.542G>A (p.Arg181His) rs371640468
NM_001849.3(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.3(COL6A2):c.791G>A (p.Arg264His) rs148029276
NM_001849.3(COL6A2):c.84G>A (p.Pro28=) rs140890046
NM_001849.3(COL6A2):c.901-10C>T rs754039292

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