ClinVar Miner

List of variants studied for Trichothiodystrophy 2, photosensitive by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00142
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_000122.2(ERCC3):c.1757del (p.Gln586fs) rs753182861 0.00013
NM_000122.2(ERCC3):c.385G>A (p.Val129Ile) rs145762413 0.00005
NM_000122.2(ERCC3):c.359C>T (p.Ala120Val) rs370115857 0.00003
NM_000122.2(ERCC3):c.1457C>T (p.Pro486Leu) rs759152503 0.00001
NM_000122.2(ERCC3):c.1996G>A (p.Asp666Asn) rs587778275 0.00001

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