ClinVar Miner

Variants in gene BRIP1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1473+6A>G rs587780827 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.508-8G>A rs202074040

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