ClinVar Miner

List of variants reported as uncertain significance for Trichothiodystrophy 1, photosensitive

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Total variants: 13
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NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile)
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs)
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.2191-4G>A rs201840907
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp)
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235

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