ClinVar Miner

List of variants in gene COL7A1 reported as likely pathogenic

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Gene type:
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Total variants: 81
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HGVS dbSNP
NC_000003.12:g.48584060del
NM_000094.3(COL7A1):c.1442G>A (p.Arg481His) rs147040026
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.3265C>T (p.Gln1089Ter) rs1553612617
NM_000094.3(COL7A1):c.3504del (p.Pro1168_Leu1169insTer) rs730880286
NM_000094.3(COL7A1):c.3551-3T>G rs773263825
NM_000094.3(COL7A1):c.3831+1G>T rs776841521
NM_000094.3(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.3(COL7A1):c.4047+2T>C rs1365148358
NM_000094.3(COL7A1):c.4600G>A (p.Gly1534Arg) rs1553860378
NM_000094.3(COL7A1):c.4864G>C (p.Gly1622Arg) rs786205561
NM_000094.3(COL7A1):c.4980+1G>C rs730880285
NM_000094.3(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.3(COL7A1):c.5737-1G>A rs1575442885
NM_000094.3(COL7A1):c.5783G>A (p.Gly1928Glu) rs1560219171
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.3(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000094.3(COL7A1):c.6262G>A (p.Gly2088Arg) rs573432153
NM_000094.3(COL7A1):c.6696del (p.Gly2233fs) rs749256529
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.6855_6881del (p.Val2286_Pro2294del) rs1553853012
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.8047G>A (p.Gly2683Ser) rs1057518863
NM_000094.3(COL7A1):c.8101G>T (p.Gly2701Trp) rs1575418015
NM_000094.3(COL7A1):c.8245G>A (p.Gly2749Arg) rs121912853
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000094.3(COL7A1):c.846G>A (p.Glu282=) rs770216458
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.2993-2A>G rs1553612928
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.5820G>A rs200972872
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.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.6501G>A rs767539005
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.7349del (p.Pro2450fs) rs1575425011
NM_000094.4(COL7A1):c.7437_7440+4del
NM_000094.4(COL7A1):c.7557+1G>T rs786204774
NM_000094.4(COL7A1):c.7615-2A>T
NM_000094.4(COL7A1):c.7768G>C (p.Gly2590Arg)
NM_000094.4(COL7A1):c.7864C>T rs139318843
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
NM_000094.4(COL7A1):c.8541del (p.Glu2848fs)

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