ClinVar Miner

List of variants studied for Familial cancer of breast; Fanconi anemia complementation group J by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_032043.3(BRIP1):c.1141-4A>G rs1226658018 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1629-498A>T rs1203185416
NM_032043.3(BRIP1):c.1629-4C>A
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs) rs786203384
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.394dup (p.Thr132fs) rs587781416
NM_032043.3(BRIP1):c.93+12dup

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