ClinVar Miner

List of variants reported as likely benign for Hereditary cancer-predisposing syndrome by Mendelics

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val) rs145085742 0.00205
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_002907.4(RECQL):c.395-9C>T rs560242370 0.00082
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_002907.4(RECQL):c.17-15C>T rs200928682 0.00006
NM_002907.4(RECQL):c.502-10C>T rs1565569497 0.00002
NM_002907.4(RECQL):c.868-10T>A rs752255394 0.00002
NM_000059.4(BRCA2):c.475+10A>G
NM_001113378.2(FANCI):c.1583+4T>C
NM_002907.4(RECQL):c.-67T>C rs1172083327
NM_002907.4(RECQL):c.214+6C>T rs768701992
NM_002907.4(RECQL):c.395-7del rs1591984814
NM_016222.4(DDX41):c.1302+3G>A

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