ClinVar Miner

List of variants in gene ERCC2 reported as pathogenic for Trichothiodystrophy 1, photosensitive

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Total variants: 7
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NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020

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