ClinVar Miner

List of variants reported as benign for Hereditary cancer-predisposing syndrome by Vantari Genetics

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000249.4(MLH1):c.454-51T>C rs4647255 0.03218
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000251.3(MSH2):c.1760-62G>A rs17218439 0.02701
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.212-58A>C rs80291632 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_024675.4(PALB2):c.1684+29A>G rs74320059 0.01884
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_002354.3(EPCAM):c.77-11T>A rs114241106 0.00733
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000314.8(PTEN):c.802-18C>T rs376702513
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799

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