ClinVar Miner

List of variants reported as uncertain significance for Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1267G>A (p.Asp423Asn) rs143710107 0.00034
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.462C>G (p.His154Gln) rs139263710 0.00025
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173 0.00008
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00008
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000400.4(ERCC2):c.1585G>A (p.Ala529Thr) rs370819591 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00003
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00003
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1292C>G (p.Pro431Arg) rs1266742977 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.2282G>C (p.Ter761Ser) rs966558219 0.00001
NM_000400.4(ERCC2):c.556C>T (p.Arg186Cys) rs143960980 0.00001
NC_000005.10:g.45860460_45860462del
NM_000400.4(ERCC2):c.1248C>G (p.Ile416Met) rs1972060367
NM_000400.4(ERCC2):c.1483A>G (p.Ile495Val)
NM_000400.4(ERCC2):c.1712C>A (p.Thr571Asn) rs2514002720
NM_000400.4(ERCC2):c.2252A>G (p.Lys751Arg)
NM_000400.4(ERCC2):c.688G>A (p.Val230Ile)
NM_000400.4(ERCC2):c.980A>G (p.Glu327Gly) rs779381865

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