ClinVar Miner

List of variants in gene COL7A1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 0.00299
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00276
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00210
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00141
NM_000094.4(COL7A1):c.1613G>A (p.Arg538His) rs138791004 0.00138
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00111
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00056
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00049
NM_000094.4(COL7A1):c.5769G>A (p.Glu1923=) rs143843471 0.00046
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val) rs144825552 0.00044
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00038
NM_000094.4(COL7A1):c.8047-4C>T rs185429200 0.00029
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.7416C>T (p.Gly2472=) rs142651194 0.00016
NM_000094.4(COL7A1):c.3232C>T (p.Arg1078Cys) rs149154108 0.00013
NM_000094.4(COL7A1):c.2072C>T (p.Thr691Met) rs771007419 0.00010
NM_000094.4(COL7A1):c.4978C>T (p.Arg1660Trp) rs147285396 0.00010
NM_000094.4(COL7A1):c.5459C>G (p.Pro1820Arg) rs143037856 0.00010
NM_000094.4(COL7A1):c.3432C>T (p.Tyr1144=) rs199679633 0.00009
NM_000094.4(COL7A1):c.1325G>A (p.Arg442His) rs146415546 0.00006
NM_000094.4(COL7A1):c.3612G>A (p.Ala1204=) rs762604188 0.00006
NM_000094.4(COL7A1):c.447C>T (p.Asp149=) rs372585819 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.7036C>T (p.Arg2346Cys) rs145729761 0.00006
NM_000094.4(COL7A1):c.6995G>A (p.Arg2332Gln) rs199907664 0.00004
NM_000094.4(COL7A1):c.1970C>G (p.Pro657Arg) rs369972686 0.00003
NM_000094.4(COL7A1):c.6501+1G>C rs759644973 0.00003
NM_000094.4(COL7A1):c.1883G>A (p.Arg628Gln) rs373777885 0.00001
NM_000094.4(COL7A1):c.2370C>T (p.Asp790=) rs368234577 0.00001
NM_000094.4(COL7A1):c.3831+1G>T rs776841521 0.00001
NM_000094.4(COL7A1):c.5172C>T (p.Arg1724=) rs775290112 0.00001
NM_000094.4(COL7A1):c.7865G>A (p.Arg2622Gln) rs368529673 0.00001
NM_000094.4(COL7A1):c.7930-1G>C rs757816953 0.00001
NM_000094.4(COL7A1):c.8770G>A (p.Ala2924Thr) rs2530795314 0.00001
NM_000094.4(COL7A1):c.1114G>A (p.Glu372Lys) rs2531323611
NM_000094.4(COL7A1):c.2214T>G (p.Ala738=)
NM_000094.4(COL7A1):c.2587+1G>A rs1294265690
NM_000094.4(COL7A1):c.2611G>A (p.Gly871Arg)
NM_000094.4(COL7A1):c.2634C>T (p.Arg878=) rs201412774
NM_000094.4(COL7A1):c.2791C>T (p.Arg931Cys) rs143979792
NM_000094.4(COL7A1):c.3503C>G (p.Pro1168Arg) rs2045260406
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3942dup (p.Asn1315fs) rs747912732
NM_000094.4(COL7A1):c.5058C>T (p.Ser1686=) rs144700737
NM_000094.4(COL7A1):c.5425-6_5425-5del rs762085901
NM_000094.4(COL7A1):c.5656C>T (p.Gln1886Ter) rs2044329211
NM_000094.4(COL7A1):c.6082G>A (p.Gly2028Arg) rs762162799
NM_000094.4(COL7A1):c.6128G>A (p.Gly2043Glu) rs2107674192
NM_000094.4(COL7A1):c.6530G>A (p.Gly2177Asp) rs2530932127
NM_000094.4(COL7A1):c.6718delinsGA (p.Pro2240fs) rs2530915554
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7521+1G>A rs1560200657
NM_000094.4(COL7A1):c.846+2T>G
NM_000094.4(COL7A1):c.8539C>T (p.Pro2847Ser) rs140041143

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