ClinVar Miner

List of variants in gene BRIP1 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_032043.3(BRIP1):c.2905+83T>A rs4988357 0.33913
NM_032043.3(BRIP1):c.508-31C>G rs4988344 0.15259
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055

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