ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic for Hereditary breast ovarian cancer syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs) rs730881645 0.00006
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520 0.00002
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter) rs575595017 0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter) rs747604569 0.00001
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter) rs1555607749
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-3_1634del
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter) rs2144384208
NM_032043.3(BRIP1):c.241del (p.Glu81fs) rs1292988272
NM_032043.3(BRIP1):c.2905+1G>C
NM_032043.3(BRIP1):c.2990_2993dup (p.Lys998fs) rs771028677
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs) rs1426528935
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter) rs786203521
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter) rs1603346983
NM_032043.3(BRIP1):c.918+2T>C rs1603346587

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