ClinVar Miner

List of variants in gene RECQL reported as benign for Hereditary cancer-predisposing syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.304G>A (p.Val102Ile) rs1065751 0.03896
NM_002907.4(RECQL):c.1460A>C (p.Lys487Thr) rs6501 0.01583
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_002907.4(RECQL):c.1215A>C (p.Ala405=) rs147610182 0.00110
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_002907.4(RECQL):c.1114G>A (p.Val372Ile) rs2230003 0.00026
NM_002907.4(RECQL):c.395-7C>T rs760078101 0.00006
NM_002907.4(RECQL):c.833C>G (p.Thr278Arg) rs372732456 0.00005
NM_002907.4(RECQL):c.501+15C>T rs373601640

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