ClinVar Miner

List of variants in gene ERCC4 reported as uncertain significance for Cockayne syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NC_000016.10:g.(?_13821951)_(13937868_?)dup
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.1212A>G (p.Pro404=) rs752193295
NM_005236.2(ERCC4):c.1265A>T (p.Asp422Val) rs767408205
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.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.1787C>A (p.Ala596Glu) rs751782722
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr) rs771117594
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.2288C>T (p.Pro763Leu) rs761087753
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.2423C>G (p.Ala808Gly) rs746576915
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.2677A>G (p.Asn893Asp) rs201926295
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile) rs140726146
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.703G>A (p.Ala235Thr) rs141101671
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
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.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_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln)
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys)
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg)
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp)
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu)
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn)
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys)
NM_005236.3(ERCC4):c.208-3T>C
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val)
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp)
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly)
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val)
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser)
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser)
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro)
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu)
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser)
NM_005236.3(ERCC4):c.389-9C>A
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn)
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala)

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