ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2191-4G>A rs201840907 0.00143
NM_000400.4(ERCC2):c.1119-85G>A rs148028467 0.00129
NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) rs147972150 0.00125
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys) rs137910235 0.00026
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_000400.4(ERCC2):c.1238-1192G>A rs180850149 0.00009
NM_000400.4(ERCC2):c.1832T>C (p.Val611Ala) rs759116129 0.00006
NM_000400.4(ERCC2):c.491A>G (p.His164Arg) rs769656890 0.00006
NM_000400.4(ERCC2):c.553C>T (p.Arg185Trp) rs139884931 0.00004
NM_000400.4(ERCC2):c.1339G>A (p.Val447Ile) rs141457460 0.00001
NM_000400.4(ERCC2):c.1843G>A (p.Gly615Arg) rs1309347920 0.00001
NM_000400.4(ERCC2):c.1958C>T (p.Thr653Ile) rs763885481 0.00001
NM_000400.4(ERCC2):c.595-10G>A rs761737358 0.00001
NM_000400.4(ERCC2):c.1118+4C>T rs762719901
NM_000400.4(ERCC2):c.1425_1426insAAGATCCTGGA (p.Val476fs) rs1972045362
NM_000400.4(ERCC2):c.1832-3C>G rs1971859134
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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