ClinVar Miner

List of variants reported as uncertain significance for Breast carcinoma

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00003
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys) rs786202520 0.00001
NM_000251.3(MSH2):c.1571G>A (p.Arg524His) rs63751207 0.00001
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) rs1393117824 0.00001
NM_000038.6(APC):c.391A>G (p.Thr131Ala) rs1580329587
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu) rs751515818
NM_000059.4(BRCA2):c.8881G>A (p.Gly2961Ser) rs878853614
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu) rs1057520473
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val) rs754225520
NM_000251.3(MSH2):c.1661+3T>G rs1064793688
NM_000251.3(MSH2):c.2029A>G (p.Thr677Ala) rs1553369013
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) rs1839125790
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000535.7(PMS2):c.834T>A (p.His278Gln) rs2128776000
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr) rs1057518875
NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe)
NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) rs1567508990
NM_007294.4(BRCA1):c.3122C>T (p.Ser1041Leu) rs397509035
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684

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