ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00080
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.2573G>A (p.Arg858His) rs537763400 0.00006
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00002
NM_001848.3(COL6A1):c.1525-9C>T rs768508076 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2465-4G>A rs769559126 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1716del (p.Tyr573fs) rs878854381
NM_001848.3(COL6A1):c.1801A>C (p.Met601Leu) rs774610686
NM_001848.3(COL6A1):c.508G>T (p.Gly170Trp) rs370889024

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