ClinVar Miner

List of variants in gene ERCC2 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000400.3(ERCC2):c.1737C>T (p.Val579=) rs3916876
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258
NM_000400.4(ERCC2):c.1832-6C>T rs1799789
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=) rs1599725250
NM_000400.4(ERCC2):c.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.387C>T (p.Asp129=) rs199993007

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