ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Department of Medical Genetics,Oslo University Hospital

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Total variants: 12
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HGVS dbSNP
NC_000017.11:g.(43076615_43082403)_(43082576_43090943)dup
NG_005905.2:g.(122139_123123)_126951del
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.213-5T>A rs886038196
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.3(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser) rs80357438

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