ClinVar Miner

List of variants in gene COL7A1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00045
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=) rs200972872 0.00010
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216 0.00001
NM_000094.4(COL7A1):c.8053C>T (p.Arg2685Ter) rs2043645754 0.00001
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser) rs774540354 0.00001
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
NM_000094.4(COL7A1):c.138C>A (p.Ser46=)
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
NM_000094.4(COL7A1):c.190C>T (p.Leu64=)
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
NM_000094.4(COL7A1):c.3411C>G (p.Ala1137=)
NM_000094.4(COL7A1):c.3672G>A (p.Gln1224=)
NM_000094.4(COL7A1):c.3831+1G>A
NM_000094.4(COL7A1):c.3975+2T>A rs753368984
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
NM_000094.4(COL7A1):c.4342-10T>A
NM_000094.4(COL7A1):c.4342-13G>A
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
NM_000094.4(COL7A1):c.4437+16G>A
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
NM_000094.4(COL7A1):c.4588C>T (p.Gln1530Ter) rs2107718927
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
NM_000094.4(COL7A1):c.4900-1G>A rs2107710536
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
NM_000094.4(COL7A1):c.5370T>A (p.Ala1790=)
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
NM_000094.4(COL7A1):c.5772+14C>T
NM_000094.4(COL7A1):c.5772+1del rs1295547257
NM_000094.4(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
NM_000094.4(COL7A1):c.6339G>A (p.Lys2113=)
NM_000094.4(COL7A1):c.6394-16G>A
NM_000094.4(COL7A1):c.6457-13C>T
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
NM_000094.4(COL7A1):c.682+1G>T
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.7269G>A (p.Glu2423=)
NM_000094.4(COL7A1):c.7335G>A (p.Pro2445=)
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
NM_000094.4(COL7A1):c.7440+20C>T
NM_000094.4(COL7A1):c.7474C>T (p.Arg2492Ter) rs765529435
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg)
NM_000094.4(COL7A1):c.7758+15A>T
NM_000094.4(COL7A1):c.7875+16G>A
NM_000094.4(COL7A1):c.846+18A>G
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.8527+12T>G
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe) rs903839030

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