ClinVar Miner

List of variants in gene BRCA1 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 10
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HGVS dbSNP
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989
NM_007299.4(BRCA1):c.548-17G>T rs80358014

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