ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 10
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HGVS dbSNP
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.2076_2077GT[1] (p.Cys693fs)
NM_032043.2(BRIP1):c.2379+1G>T rs1555590286
NM_032043.2(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569

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