ClinVar Miner

List of variants reported as benign for Malignant tumor of breast by Center of Medical Genetics and Primary Health Care

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.53338
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.22523
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10965
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_198253.3(TERT):c.835G>A (p.Ala279Thr) rs61748181 0.02211
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01651
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00668
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208 0.00320
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00164
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00136
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00112
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00101
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560 0.00064
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) rs142777869 0.00034
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00003
NM_177438.3(DICER1):c.1381A>G (p.Ile461Val) rs141163928 0.00003
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966

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