ClinVar Miner

List of variants in gene ERCC6 reported as benign by Eurofins NTD LLC (GA)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815 0.00246
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208

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