ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1156A>T (p.Lys386Ter) rs730881635
NM_032043.2(BRIP1):c.1234_1235del (p.Glu412fs) rs1064795649
NM_032043.2(BRIP1):c.124_127TGTT[1] (p.Leu43fs) rs1064794202
NM_032043.2(BRIP1):c.1312del (p.Leu438fs) rs1064795413
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.1776G>A (p.Trp592Ter) rs753023295
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2205dup (p.Asp736Ter) rs1555591385
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2330del (p.Arg777fs) rs1064794689
NM_032043.2(BRIP1):c.243del (p.Val82fs) rs1064794890
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2575+1G>A rs1567737536
NM_032043.2(BRIP1):c.307G>T (p.Gly103Ter) rs777068696
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.409_410del (p.Lys137fs) rs1057520058
NM_032043.2(BRIP1):c.566C>G (p.Ser189Ter) rs1555615763
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys) rs752309409
NM_032043.2(BRIP1):c.917dup (p.Asn306fs) rs1555609121
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.93+1G>T rs587782047

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