ClinVar Miner

List of variants in gene ERCC4 reported as uncertain significance for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_005236.2(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.2(ERCC4):c.1045G>A (p.Ala349Thr)
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.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457
NM_005236.2(ERCC4):c.1681A>T (p.Ser561Cys)
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.1787C>A (p.Ala596Glu)
NM_005236.2(ERCC4):c.19G>A (p.Ala7Thr)
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
NM_005236.2(ERCC4):c.2125G>A (p.Val709Met) rs373906926
NM_005236.2(ERCC4):c.2169C>A (p.Cys723Ter)
NM_005236.2(ERCC4):c.2177G>A (p.Arg726His)
NM_005236.2(ERCC4):c.217A>G (p.Ile73Val) rs141591400
NM_005236.2(ERCC4):c.2186T>C (p.Ile729Thr)
NM_005236.2(ERCC4):c.2288C>T (p.Pro763Leu)
NM_005236.2(ERCC4):c.2295G>T (p.Lys765Asn)
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.2(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.2(ERCC4):c.2423C>G (p.Ala808Gly)
NM_005236.2(ERCC4):c.257G>A (p.Arg86His)
NM_005236.2(ERCC4):c.2591G>A (p.Arg864His) rs1211543560
NM_005236.2(ERCC4):c.2603A>C (p.His868Pro)
NM_005236.2(ERCC4):c.2603A>G (p.His868Arg)
NM_005236.2(ERCC4):c.260G>A (p.Arg87His) rs371487368
NM_005236.2(ERCC4):c.2677A>G (p.Asn893Asp)
NM_005236.2(ERCC4):c.2725G>A (p.Val909Ile)
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)
NM_005236.2(ERCC4):c.714G>A (p.Lys238=) rs780166871
NM_005236.2(ERCC4):c.790A>G (p.Lys264Glu)
NM_005236.2(ERCC4):c.798C>G (p.Ile266Met)
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)

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