ClinVar Miner

List of variants in gene ERCC4 reported as likely benign for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_005236.2(ERCC4):c.*1708G>A rs528435639
NM_005236.2(ERCC4):c.*2139A>C rs140019040
NM_005236.2(ERCC4):c.*3200A>G rs8056393
NM_005236.2(ERCC4):c.*3439G>A rs192113185
NM_005236.2(ERCC4):c.*3537C>T rs113073720
NM_005236.2(ERCC4):c.*558A>C rs376791839
NM_005236.2(ERCC4):c.*675G>T rs1651203
NM_005236.2(ERCC4):c.*947T>C rs117293226
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
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.1488A>T (p.Gln496His) rs146601373
NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412
NM_005236.2(ERCC4):c.1606G>C (p.Val536Leu) rs143347563
NM_005236.2(ERCC4):c.1677T>C (p.Gly559=) rs776049363
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
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.2046A>G (p.Gln682=) rs565249189
NM_005236.2(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069
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.2427G>A (p.Thr809=) rs2020960
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.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
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.718C>T (p.Leu240=) rs746904084
NM_005236.2(ERCC4):c.974-6T>C rs201181735
NM_005236.3(ERCC4):c.*1056A>G
NM_005236.3(ERCC4):c.*1353G>A
NM_005236.3(ERCC4):c.*2816A>T
NM_005236.3(ERCC4):c.*3727G>T
NM_005236.3(ERCC4):c.*3911C>T
NM_005236.3(ERCC4):c.*701A>T
NM_005236.3(ERCC4):c.1102+36dup rs761458435
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) rs768020598
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) rs191674905
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) rs1408777193
NM_005236.3(ERCC4):c.973+11A>T

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