ClinVar Miner

List of variants studied for Trichothiodystrophy 1, photosensitive by Nilou-Genome Lab

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Total variants: 6
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HGVS dbSNP
NM_000400.4(ERCC2):c.1758+32C>G rs238417
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181
NM_000400.4(ERCC2):c.247-35G>A rs1799783
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793

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