ClinVar Miner

List of variants reported as likely benign for breast cancer by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
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_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_032043.2(BRIP1):c.2097+8A>C rs730881642 0.00001
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala) rs748780206
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_032043.3(BRIP1):c.3737C>T (p.Pro1246Leu) rs876660074

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