ClinVar Miner

List of variants in gene COL7A1 reported as uncertain significance by Department of Pathology and Laboratory Medicine,Sinai Health System

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Total variants: 11
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NM_000094.3(COL7A1):c.1613G>A (p.Arg538His) rs138791004
NM_000094.3(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.724G>A (p.Glu242Lys) rs549872555
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.923T>C (p.Ile308Thr) rs145738101
NM_000094.4(COL7A1):c.3727C>T (p.Arg1243Trp)
NM_000094.4(COL7A1):c.4859G>A (p.Arg1620Gln)
NM_000094.4(COL7A1):c.5096C>T rs121912845
NM_000094.4(COL7A1):c.631G>A (p.Val211Ile)
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser)

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