ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002907.4(RECQL):c.1483G>C (p.Asp495His) rs6499 0.00353
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_002907.4(RECQL):c.395-9C>T rs560242370 0.00082
NM_001105247.2(ARMC5):c.1371-3C>A rs200655247 0.00048
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser) rs138663409 0.00045
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_002907.4(RECQL):c.17-15C>T rs200928682 0.00006
NM_020937.4(FANCM):c.179C>A (p.Ala60Glu) rs200717151 0.00006
NM_006506.5(RASA2):c.807A>T (p.Leu269=) rs757160095 0.00005
NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser) rs751262177 0.00004
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.464G>C (p.Arg155Thr) rs377639990 0.00001
NM_000059.4(BRCA2):c.5350A>C (p.Asn1784His) rs1308950771 0.00001
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg) rs80359164 0.00001
NM_006231.4(POLE):c.44C>T (p.Ala15Val) rs1565986587 0.00001
NM_000038.6(APC):c.7193C>A (p.Ser2398Tyr) rs150882838
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met) rs1027959208
NM_000059.4(BRCA2):c.475+10A>G
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
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_004360.5(CDH1):c.313T>A (p.Ser105Thr) rs1165815510
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu) rs5744799
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_016222.4(DDX41):c.1302+3G>A

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