ClinVar Miner

List of variants reported as uncertain significance for Breast carcinoma by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
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_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_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys) rs786202520 0.00001
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.2697G>T (p.Met899Ile) rs878853813
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) rs1839125790
NM_000455.5(STK11):c.465-4G>A rs587780009

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