ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1425delA (p.Gly476Alafs) rs878854398
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1716del (p.Tyr573Thrfs) rs878854381
NM_001848.2(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2465-4G>A rs769559126
NM_001848.2(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674
NM_001848.2(COL6A1):c.2573G>A (p.Arg858His) rs537763400
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.394G>A (p.Ala132Thr)

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