ClinVar Miner

List of variants studied for Breast carcinoma by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
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_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 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_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
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.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val) rs754225520
NM_000251.3(MSH2):c.1661+3T>G rs1064793688
NM_000251.3(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.3(MSH2):c.229_230del (p.Ser77fs) rs63749848
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.3(MSH2):c.942+14_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) rs748780206
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser) rs1839125790
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303

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