ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q

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ClinVar version:
Total variants: 186
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HGVS dbSNP
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.1212A>G (p.Pro404=) rs752193295
NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) rs767408205
NM_005236.2(ERCC4):c.1284G>A (p.Ala428=) rs3136151
NM_005236.2(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457
NM_005236.2(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) rs61760160
NM_005236.2(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068
NM_005236.2(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005236.2(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1899C>G (p.Leu633=) rs954215121
NM_005236.2(ERCC4):c.1983A>G (p.Ala661=) rs373237850
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
NM_005236.2(ERCC4):c.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.211T>C (p.Tyr71His) rs145315496
NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) rs373906926
NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959
NM_005236.2(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375
NM_005236.2(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194
NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753
NM_005236.2(ERCC4):c.228G>A (p.Leu76=) rs61760162
NM_005236.2(ERCC4):c.2292C>T (p.Ser764=) rs139406689
NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853
NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.2(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915
NM_005236.2(ERCC4):c.2427G>A (p.Thr809=) rs2020960
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.2477C>T (p.Ala826Val) rs141790888
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605
NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933
NM_005236.2(ERCC4):c.257G>A (p.Arg86His) rs187435008
NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) rs1211543560
NM_005236.2(ERCC4):c.2603A>C (p.His868Pro) rs368064765
NM_005236.2(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.2(ERCC4):c.260G>A (p.Arg87His) rs371487368
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile) rs140726146
NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735
NM_005236.2(ERCC4):c.325G>A (p.Ala109Thr) rs148791570
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.2(ERCC4):c.41C>T (p.Pro14Leu) rs754622238
NM_005236.2(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.2(ERCC4):c.532G>T (p.Val178Leu) rs149927607
NM_005236.2(ERCC4):c.61C>G (p.Gln21Glu) rs748499820
NM_005236.2(ERCC4):c.703G>A (p.Ala235Thr) rs141101671
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
NM_005236.2(ERCC4):c.718C>T (p.Leu240=) rs746904084
NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.2(ERCC4):c.798C>G (p.Ile266Met) rs746106147
NM_005236.2(ERCC4):c.79C>T (p.Leu27Phe) rs587778282
NM_005236.2(ERCC4):c.875G>A (p.Arg292Gln) rs202243691
NM_005236.2(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.2(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.2(ERCC4):c.906T>C (p.Asp302=) rs148003381
NM_005236.2(ERCC4):c.974-6T>C rs201181735
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile)
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys)
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu)
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
NM_005236.3(ERCC4):c.1102+1G>T
NM_005236.3(ERCC4):c.1102+7T>A
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys)
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys)
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe)
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly)
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn)
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe)
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr)
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser)
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) rs1352012558
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile)
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys)
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser)
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro)
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu)
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=)
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp)
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln)
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser)
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
NM_005236.3(ERCC4):c.2017+3G>A
NM_005236.3(ERCC4):c.208-3T>C
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys)
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys)
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser)
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu)
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr)
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys)
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr)
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val)
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg)
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val)
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
NM_005236.3(ERCC4):c.389-9C>A
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys)
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr)
NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu)
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln)
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.514G>C (p.Asp172His)
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
NM_005236.3(ERCC4):c.580_584+1del
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu)
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu)
NM_005236.3(ERCC4):c.793-2A>G
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys)
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu)
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro)
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser)
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met)
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr)

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