ClinVar Miner

List of variants in gene COL7A1 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74947
NM_000094.4(COL7A1):c.3139+12G>A rs2255532 0.46226
NM_000094.4(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561 0.09897
NM_000094.4(COL7A1):c.8305-20G>C rs17256786 0.05213
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247 0.03954
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.4483-11T>C rs74390291 0.00781
NM_000094.4(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261 0.00636
NM_000094.4(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822 0.00472
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546 0.00401
NM_000094.4(COL7A1):c.5307+7G>C rs116455408 0.00347
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
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.6090C>T (p.Ser2030=) rs200360245 0.00121
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_000094.4(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193 0.00109
NM_000094.4(COL7A1):c.5388+20C>T rs200931039 0.00101
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473 0.00095
NM_000094.4(COL7A1):c.8530C>T (p.Arg2844Trp) rs138002006 0.00089
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00077
NM_000094.4(COL7A1):c.2010C>T (p.Gly670=) rs74861804 0.00068
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.5343C>T (p.Ser1781=) rs147919436 0.00057
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00057
NM_000094.4(COL7A1):c.933C>T (p.Tyr311=) rs121912830 0.00056
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000094.4(COL7A1):c.3140-4A>T rs201656230 0.00045
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val) rs144825552 0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=) rs151186709 0.00035
NM_000094.4(COL7A1):c.1358-10T>C rs200022744 0.00032
NM_000094.4(COL7A1):c.1857A>G (p.Gly619=) rs145812249 0.00024
NM_000094.4(COL7A1):c.5125-10C>T rs768482060 0.00024
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000094.4(COL7A1):c.4485C>T (p.Gly1495=) rs367958901 0.00010
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00010
NM_000094.4(COL7A1):c.3343G>C (p.Gly1115Arg) rs200235451 0.00009
NM_000094.4(COL7A1):c.6394-9T>C rs374698863 0.00009
NM_000094.4(COL7A1):c.8037C>T (p.Ile2679=) rs112974441 0.00009
NM_000094.4(COL7A1):c.4944G>A (p.Pro1648=) rs111360822 0.00008
NM_000094.4(COL7A1):c.5877C>T (p.Ile1959=) rs779298653 0.00006
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000094.4(COL7A1):c.8322C>T (p.Ala2774=) rs142948995 0.00006
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.3412G>A (p.Val1138Met) rs145048666 0.00004
NM_000094.4(COL7A1):c.5132C>T (p.Thr1711Ile) rs771521596 0.00004
NM_000094.4(COL7A1):c.8206G>A (p.Glu2736Lys) rs779942952 0.00004
NM_000094.4(COL7A1):c.3213T>C (p.Ala1071=) rs774363321 0.00003
NM_000094.4(COL7A1):c.3999T>C (p.Pro1333=) rs756134134 0.00003
NM_000094.4(COL7A1):c.6516A>G (p.Pro2172=) rs1401423123 0.00003
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000094.4(COL7A1):c.1494C>T (p.Thr498=) rs776229982 0.00002
NM_000094.4(COL7A1):c.1860C>T (p.Pro620=) rs369313576 0.00002
NM_000094.4(COL7A1):c.2170+10G>C rs371117425 0.00002
NM_000094.4(COL7A1):c.2315-8G>T rs760773288 0.00002
NM_000094.4(COL7A1):c.5532+8T>C rs1321882939 0.00002
NM_000094.4(COL7A1):c.611T>C (p.Leu204Ser) rs745939385 0.00002
NM_000094.4(COL7A1):c.7012C>T (p.Arg2338Ter) rs745874032 0.00002
NM_000094.4(COL7A1):c.8016C>A (p.Ala2672=) rs748676695 0.00002
NM_000094.4(COL7A1):c.852C>T (p.Asn284=) rs765324289 0.00002
NM_000094.4(COL7A1):c.1837C>T (p.Arg613Ter) rs759634066 0.00001
NM_000094.4(COL7A1):c.3181G>A (p.Ala1061Thr) rs778942747 0.00001
NM_000094.4(COL7A1):c.3831+3G>A rs767241808 0.00001
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.4264G>A (p.Glu1422Lys) rs369814181 0.00001
NM_000094.4(COL7A1):c.4521G>C (p.Gly1507=) rs747087195 0.00001
NM_000094.4(COL7A1):c.469G>A (p.Asp157Asn) rs767282486 0.00001
NM_000094.4(COL7A1):c.4818+18T>A rs368227259 0.00001
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5344G>A (p.Gly1782Arg) rs374718902 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.7234C>T (p.Arg2412Ter) rs1342522878 0.00001
NM_000094.4(COL7A1):c.7485+5G>A rs988031901 0.00001
NM_000094.4(COL7A1):c.7581G>A (p.Gly2527=) rs530291076 0.00001
NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) rs749519562 0.00001
NM_000094.4(COL7A1):c.1626C>T (p.Arg542=)
NM_000094.4(COL7A1):c.2050+8C>A rs200654405
NM_000094.4(COL7A1):c.2442C>T (p.Gly814=) rs546082340
NM_000094.4(COL7A1):c.2469A>C (p.Pro823=) rs886038238
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs) rs746056280
NM_000094.4(COL7A1):c.2574TGT[1] (p.Val860del)
NM_000094.4(COL7A1):c.2587+49T>C
NM_000094.4(COL7A1):c.2903C>T (p.Ser968Leu)
NM_000094.4(COL7A1):c.3040C>T (p.Arg1014Trp)
NM_000094.4(COL7A1):c.3364C>T (p.Arg1122Cys)
NM_000094.4(COL7A1):c.4031G>A (p.Gly1344Asp)
NM_000094.4(COL7A1):c.4182_4188dup (p.Ala1397fs)
NM_000094.4(COL7A1):c.448G>A (p.Gly150Arg) rs757715378
NM_000094.4(COL7A1):c.4490G>T (p.Arg1497Leu)
NM_000094.4(COL7A1):c.4970G>A (p.Arg1657His)
NM_000094.4(COL7A1):c.5154+8G>A
NM_000094.4(COL7A1):c.5605G>C (p.Gly1869Arg) rs1057517724
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg) rs121912832
NM_000094.4(COL7A1):c.6017G>A (p.Gly2006Asp) rs121912842
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6100G>T (p.Gly2034Trp)
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6235G>A (p.Gly2079Arg) rs2107671960
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs) rs768128088
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6734G>A (p.Gly2245Asp) rs2107660525
NM_000094.4(COL7A1):c.7096G>T (p.Gly2366Cys)
NM_000094.4(COL7A1):c.710_711delinsT (p.Asp237fs)
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7268A>G (p.Glu2423Gly)
NM_000094.4(COL7A1):c.7621C>T (p.Arg2541Ter) rs2107641787
NM_000094.4(COL7A1):c.7787del (p.Gly2596fs) rs759990189
NM_000094.4(COL7A1):c.809C>T (p.Thr270Met)
NM_000094.4(COL7A1):c.8101G>A (p.Gly2701Arg)
NM_000094.4(COL7A1):c.8165G>T (p.Gly2722Val) rs759949767
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.8277T>A (p.Pro2759=)
NM_000094.4(COL7A1):c.8357C>T (p.Thr2786Met)
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000094.4(COL7A1):c.860_872dup (p.Ser291_Val292insTrpTer)
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277
NM_000094.4(COL7A1):c.8818+4T>G

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