ClinVar Miner

List of variants in gene ERCC2 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys) rs121913021 0.00004
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro) rs121913018 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519 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.860G>A (p.Arg287His) rs765839639 0.00002
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) rs758439420 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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