ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.3(BRCA1):c.3485del (p.Asp1162fs) rs80357509
NM_007294.3(BRCA1):c.3752_3755GTCT[1] (p.Ser1253fs) rs80357868
NM_007294.3(BRCA1):c.4249_4250GT[1] (p.Leu1418fs) rs80357977
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.66dupA (p.Glu23Argfs) rs80357783
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898

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