ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic for breast carcinoma

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.1061del (p.Asn354fs) rs2154478354
NM_007294.4(BRCA1):c.1119_1120insCTGA (p.Thr374fs) rs2154475092
NM_007294.4(BRCA1):c.1140dup (p.Lys381fs) rs876659327
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.2756del (p.Pro919fs) rs2154361062
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly) rs864622444
NM_007294.4(BRCA1):c.473_547+288del rs2154527022
NM_007294.4(BRCA1):c.4986+5G>A rs397509211
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.671-1G>T rs80358020

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