ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported as likely benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000123.3(ERCC5):c.*89G>A rs4150390
NM_000123.3(ERCC5):c.-72C>T rs2296148
NM_000123.3(ERCC5):c.-74G>A rs3218736
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.1880C>A (p.Ala627Glu) rs2227870
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_001204425.1(BIVM-ERCC5):c.1450+6024A>C rs74109690
NM_001204425.1(BIVM-ERCC5):c.1450+6027C>A rs4150248

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