ClinVar Miner

List of variants reported as uncertain significance by Breast Center, Key Laboratory of Carcinogenesis and Translational Research

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.4892G>A (p.Ser1631Asn) rs273901742 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.161A>G (p.Gln54Arg) rs397507189
NM_007294.4(BRCA1):c.176C>T (p.Ser59Leu) rs199522616
NM_007294.4(BRCA1):c.223G>C (p.Glu75Gln) rs1567811244
NM_007294.4(BRCA1):c.22G>T (p.Val8Phe) rs528902306
NM_007294.4(BRCA1):c.4946G>A (p.Arg1649Lys) rs876660509
NM_007294.4(BRCA1):c.49G>T (p.Ala17Ser) rs1402064476
NM_007294.4(BRCA1):c.5035C>G (p.Leu1679Val) rs934248073
NM_007294.4(BRCA1):c.5156T>C (p.Val1719Ala) rs1247437511
NM_007294.4(BRCA1):c.5162A>G (p.Gln1721Arg) rs2051867806
NM_007294.4(BRCA1):c.5193G>T (p.Glu1731Asp) rs876660702
NM_007294.4(BRCA1):c.5245C>G (p.Pro1749Ala) rs397509244
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5334T>A (p.Asp1778Glu) rs754152768
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys) rs776323117
NM_007294.4(BRCA1):c.84G>T (p.Leu28=) rs1555599278

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