ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic by GeneDx

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Total variants: 7
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HGVS dbSNP
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
NM_000094.3(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7864C>T rs139318843

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