ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000123.4(ERCC5):c.264+1del

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