ClinVar Miner

List of variants studied for Breast carcinoma by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) rs587781633 0.00001
NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala) rs1393117824 0.00001
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_001040108.2(MLH3):c.3034G>A (p.Ala1012Thr) rs1057518875
NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu) rs751841684

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