ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic for COL7A1-related disorders

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.3975+2T>A rs753368984
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000094.4(COL7A1):c.682+1G>T
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg)

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