ClinVar Miner

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

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Total variants: 49
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HGVS dbSNP
NM_000094.3(COL7A1):c.3831+1G>T rs776841521
NM_000094.3(COL7A1):c.4047+2T>C rs1365148358
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5737-1G>A rs1575442885
NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153
NM_000094.3(COL7A1):c.6900+4A>G rs1057518706
NM_000094.3(COL7A1):c.7104+1G>A rs772756089
NM_000094.3(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853
NM_000094.4(COL7A1):c.1240+1G>T
NM_000094.4(COL7A1):c.1781-2A>G
NM_000094.4(COL7A1):c.2587+1G>A
NM_000094.4(COL7A1):c.2587+1G>C
NM_000094.4(COL7A1):c.2587+40G>A
NM_000094.4(COL7A1):c.3760-1G>A
NM_000094.4(COL7A1):c.3831+2T>C
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp)
NM_000094.4(COL7A1):c.4120-1G>A
NM_000094.4(COL7A1):c.4341+2T>C
NM_000094.4(COL7A1):c.4342-1G>T
NM_000094.4(COL7A1):c.4437+1G>C
NM_000094.4(COL7A1):c.4437+2T>G
NM_000094.4(COL7A1):c.4483-1G>A
NM_000094.4(COL7A1):c.4519-2del
NM_000094.4(COL7A1):c.4900-2A>G
NM_000094.4(COL7A1):c.4936-1G>A
NM_000094.4(COL7A1):c.5052+1G>A
NM_000094.4(COL7A1):c.5125-2A>T
NM_000094.4(COL7A1):c.520+1G>C
NM_000094.4(COL7A1):c.5820+1G>C
NM_000094.4(COL7A1):c.6044G>T (p.Gly2015Val)
NM_000094.4(COL7A1):c.6216+1G>A
NM_000094.4(COL7A1):c.6217-2del
NM_000094.4(COL7A1):c.6394-1G>C
NM_000094.4(COL7A1):c.6456+1G>C
NM_000094.4(COL7A1):c.6502-2A>G
NM_000094.4(COL7A1):c.6538-2A>C
NM_000094.4(COL7A1):c.683-1G>A
NM_000094.4(COL7A1):c.7068+2T>C
NM_000094.4(COL7A1):c.7068+2_7068+3del
NM_000094.4(COL7A1):c.7344+1G>C
NM_000094.4(COL7A1):c.7344+1G>T
NM_000094.4(COL7A1):c.7437_7440+4del
NM_000094.4(COL7A1):c.7615-2A>T
NM_000094.4(COL7A1):c.8020G>C (p.Gly2674Arg)
NM_000094.4(COL7A1):c.8227-1G>C
NM_000094.4(COL7A1):c.8408-7_8419del
NM_000094.4(COL7A1):c.8440+1G>A
NM_000094.4(COL7A1):c.846+2T>C

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