ClinVar Miner

List of variants studied for Xeroderma pigmentosum, complementation group b by Mendelics

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Total variants: 8
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HGVS dbSNP
NM_000122.2(ERCC3):c.1828-32A>T rs773954881
NM_000122.2(ERCC3):c.1828-33C>T rs745775695
NM_000122.2(ERCC3):c.1828-35C>T rs1444307407
NM_000122.2(ERCC3):c.1828-36C>T rs113416031
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter) rs1404157087
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter) rs1404293670

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