ClinVar Miner

List of variants in gene ERCC2 studied for Trichothiodystrophy 1, photosensitive

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Total variants: 28
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HGVS dbSNP
NM_000400.4(ERCC2):c.1119-85G>A
NM_000400.4(ERCC2):c.1238-1192G>A
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)
NM_000400.4(ERCC2):c.1758+32C>G rs238417
NM_000400.4(ERCC2):c.1832-3C>G
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555
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.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000400.4(ERCC2):c.247-35G>A rs1799783
NM_000400.4(ERCC2):c.334C>T (p.Arg112Cys)
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) rs121913020
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)
NM_000400.4(ERCC2):c.594+2_594+5del rs762309206
NM_000400.4(ERCC2):c.595-10G>A
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793

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