ClinVar Miner

List of variants in gene COL7A1 studied for Generalized dominant dystrophic epidermolysis bullosa

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403 0.00080
NM_000094.4(COL7A1):c.4222C>T (p.Arg1408Trp) rs143126677 0.00076
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00076
NM_000094.4(COL7A1):c.2679G>A (p.Ala893=) rs374261595 0.00028
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=) rs142651194 0.00016
NM_000094.4(COL7A1):c.7380+8G>A rs560853464 0.00008
NM_000094.4(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584 0.00006
NM_000094.4(COL7A1):c.4968G>A (p.Glu1656=) rs779192809 0.00003
NM_000094.4(COL7A1):c.7128G>A (p.Pro2376=) rs776459582 0.00003
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter) rs144023803 0.00002
NM_000094.4(COL7A1):c.497dup (p.Val168fs) rs766902987 0.00002
NM_000094.4(COL7A1):c.3831+1G>T rs776841521 0.00001
NM_000094.4(COL7A1):c.6190G>A (p.Gly2064Arg) rs866061439 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.4601G>A (p.Gly1534Glu) rs2107717803
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs) rs1057517722
NM_000094.4(COL7A1):c.5099G>T (p.Gly1700Val) rs2107703081
NM_000094.4(COL7A1):c.5318G>A (p.Gly1773Asp) rs2107697174
NM_000094.4(COL7A1):c.5738G>T (p.Gly1913Val) rs2107680443
NM_000094.4(COL7A1):c.5765G>A (p.Gly1922Glu) rs2107680342
NM_000094.4(COL7A1):c.5772G>A (p.Gln1924=) rs2107680234
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6008G>A (p.Gly2003Glu) rs2107675162
NM_000094.4(COL7A1):c.6016G>A (p.Gly2006Ser) rs2107675136
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6025G>A (p.Gly2009Arg) rs2107675021
NM_000094.4(COL7A1):c.6026G>A (p.Gly2009Glu) rs1342925232
NM_000094.4(COL7A1):c.6035G>A (p.Gly2012Asp) rs2107674937
NM_000094.4(COL7A1):c.6044G>A (p.Gly2015Glu) rs121912843
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6110G>A (p.Gly2037Glu) rs121912846
NM_000094.4(COL7A1):c.6110G>T (p.Gly2037Val) rs121912846
NM_000094.4(COL7A1):c.6118G>A (p.Gly2040Ser) rs121912829
NM_000094.4(COL7A1):c.6119G>A (p.Gly2040Asp) rs2044225406
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu) rs2107674192
NM_000094.4(COL7A1):c.6136G>A (p.Gly2046Ser) rs2107674135
NM_000094.4(COL7A1):c.6164G>A (p.Gly2055Glu) rs1553854678
NM_000094.4(COL7A1):c.6191G>A (p.Gly2064Glu) rs2107672816
NM_000094.4(COL7A1):c.6209G>A (p.Gly2070Glu) rs2107672732
NM_000094.4(COL7A1):c.6209G>T (p.Gly2070Val) rs2107672732
NM_000094.4(COL7A1):c.6227G>A (p.Gly2076Asp) rs121912850
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6235_6236delinsAA (p.Gly2079Lys) rs2107671950
NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp) rs2107660525
NM_000094.4(COL7A1):c.6841G>C (p.Gly2281Arg)
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.6900+4A>G rs1057518706
NM_000094.4(COL7A1):c.7274G>A (p.Gly2425Asp)
NM_000094.4(COL7A1):c.7505G>A (p.Gly2502Glu)
NM_000094.4(COL7A1):c.7876G>A (p.Gly2626Ser) rs2107636606
NM_000094.4(COL7A1):c.7877G>A (p.Gly2626Asp) rs2107636603
NM_000094.4(COL7A1):c.7976G>A (p.Gly2659Glu) rs2107635651
NM_000094.4(COL7A1):c.8045A>G (p.Lys2682Arg)
NM_000094.4(COL7A1):c.80A>G (p.Glu27Gly) rs2107811799
NM_000094.4(COL7A1):c.811G>C (p.Gly271Arg) rs2531335596
NM_000094.4(COL7A1):c.8236G>C (p.Gly2746Arg) rs2107632058

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