ClinVar Miner

List of variants in gene ERCC8 reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) rs61754098 0.00199
NM_000082.4(ERCC8):c.77+16C>T rs4647039 0.00133
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000082.4(ERCC8):c.175A>T (p.Met59Leu) rs140343389 0.00051
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) rs146740678 0.00008
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) rs143367518 0.00004
NM_000082.4(ERCC8):c.510T>C (p.Leu170=) rs886042104 0.00004
NM_000082.4(ERCC8):c.1017C>A (p.Cys339Ter) rs753663016 0.00003
NM_000082.4(ERCC8):c.127G>A (p.Gly43Ser) rs794727233 0.00002
NM_000082.4(ERCC8):c.152T>C (p.Ile51Thr) rs369140985 0.00002
NM_000082.4(ERCC8):c.-3G>A rs199968351 0.00001
NM_000082.4(ERCC8):c.42C>T (p.Asp14=) rs886043215 0.00001
NM_000082.4(ERCC8):c.637T>C (p.Leu213=) rs752757232 0.00001
NM_000082.4(ERCC8):c.761C>A (p.Thr254Lys) rs775948859 0.00001
NM_000082.4(ERCC8):c.299dup (p.Tyr100Ter) rs1554074581

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