ClinVar Miner

Variants with conflicting interpretations "likely benign" from Vantari Genetics and "benign" from any submitter

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Total variants with conflicting interpretations: 30
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754

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