ClinVar Miner

List of variants in gene BRIP1 reported by Leiden Open Variation Database

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Gene type:
ClinVar version:
Total variants: 109
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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.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=) rs61754142 0.00012
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=) rs730881640 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=) rs764848326 0.00005
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=) rs148429663 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2492+2dup rs587780240 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 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.2554A>G (p.Asn852Asp) rs745782331 0.00002
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=) rs757427498 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val) rs876658383 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2121T>C (p.Arg707=) rs1481107855 0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly) rs745578572 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.3140T>C (p.Leu1047Ser) rs786203344 0.00001
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=) rs758809865 0.00001
NM_032043.3(BRIP1):c.537A>G (p.Glu179=) rs775509896 0.00001
NM_032043.3(BRIP1):c.721T>C (p.Ser241Pro) rs771542690 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032043.3(BRIP1):c.972A>T (p.Thr324=) rs779627397 0.00001
NM_032043.3(BRIP1):c.1093A>G (p.Ile365Val) rs749251680
NM_032043.3(BRIP1):c.1114C>A (p.Leu372Ile) rs786202637
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=) rs2077986700
NM_032043.3(BRIP1):c.1142T>G (p.Met381Arg) rs1060501741
NM_032043.3(BRIP1):c.1186C>G (p.His396Asp) rs1603342316
NM_032043.3(BRIP1):c.1206T>G (p.Ala402=) rs1203573533
NM_032043.3(BRIP1):c.1288A>G (p.Ile430Val) rs1567829158
NM_032043.3(BRIP1):c.1293G>A (p.Arg431=) rs2077947527
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) rs771861055
NM_032043.3(BRIP1):c.1367T>C (p.Leu456Pro) rs1555605947
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser) rs1567825164
NM_032043.3(BRIP1):c.1463C>T (p.Pro488Leu) rs1237035767
NM_032043.3(BRIP1):c.1510A>T (p.Ile504Phe) rs2077671480
NM_032043.3(BRIP1):c.1628+5G>A rs754929230
NM_032043.3(BRIP1):c.1629-498A>T rs1203185416
NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg) rs1567813893
NM_032043.3(BRIP1):c.1774del (p.Trp592fs) rs2077606796
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1972C>G (p.Arg658Gly) rs786203170
NM_032043.3(BRIP1):c.1996A>G (p.Asn666Asp) rs765816425
NM_032043.3(BRIP1):c.2024A>C (p.Glu675Ala) rs1555601081
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=) rs2077532892
NM_032043.3(BRIP1):c.2117A>C (p.Glu706Ala) rs2077034373
NM_032043.3(BRIP1):c.2127C>G (p.Leu709=) rs1060504325
NM_032043.3(BRIP1):c.2155T>G (p.Leu719Val) rs771122056
NM_032043.3(BRIP1):c.2158_2160dup (p.Val720dup) rs878855146
NM_032043.3(BRIP1):c.2301G>C (p.Glu767Asp) rs369434185
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2421G>A (p.Leu807=) rs2061855530
NM_032043.3(BRIP1):c.24T>G (p.Tyr8Ter) rs752411477
NM_032043.3(BRIP1):c.2531T>C (p.Leu844Pro) rs1555574776
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.2607G>C (p.Gln869His) rs2061361150
NM_032043.3(BRIP1):c.2737T>C (p.Ser913Pro) rs1555573382
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2830del (p.Gln944fs) rs2061353736
NM_032043.3(BRIP1):c.2839C>T (p.Gln947Ter) rs2061353270
NM_032043.3(BRIP1):c.287C>T (p.Thr96Ile) rs2078908690
NM_032043.3(BRIP1):c.2947del (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2959A>G (p.Arg987Gly) rs1603275660
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs) rs1342519012
NM_032043.3(BRIP1):c.3079G>C (p.Glu1027Gln) rs371185409
NM_032043.3(BRIP1):c.3118A>G (p.Lys1040Glu) rs876659428
NM_032043.3(BRIP1):c.3180A>G (p.Val1060=) rs2061317418
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3266C>G (p.Ser1089Cys) rs761278503
NM_032043.3(BRIP1):c.3344C>G (p.Ser1115Cys) rs1419933310
NM_032043.3(BRIP1):c.3403G>C (p.Glu1135Gln) rs369340444
NM_032043.3(BRIP1):c.3481_3489dup (p.Asn1161_Asp1163dup) rs2061304922
NM_032043.3(BRIP1):c.3572T>C (p.Ile1191Thr) rs2061301543
NM_032043.3(BRIP1):c.3576T>C (p.Asp1192=) rs2061301396
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032043.3(BRIP1):c.3661C>G (p.Leu1221Val) rs2061298344
NM_032043.3(BRIP1):c.3689A>G (p.Glu1230Gly) rs1603274697
NM_032043.3(BRIP1):c.408A>G (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.409A>G (p.Lys137Glu) rs878855157
NM_032043.3(BRIP1):c.424A>G (p.Lys142Glu) rs1555616188
NM_032043.3(BRIP1):c.542A>G (p.His181Arg) rs2078748128
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=) rs876659588
NM_032043.3(BRIP1):c.588C>T (p.Asn196=) rs758851721
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter) rs45459799
NM_032043.3(BRIP1):c.725A>G (p.Lys242Arg) rs876660647
NM_032043.3(BRIP1):c.765G>T (p.Gln255His) rs2078111971
NM_032043.3(BRIP1):c.842A>C (p.His281Pro) rs1603346710
NM_032043.3(BRIP1):c.879C>G (p.Asn293Lys) rs2078107772
NM_032043.3(BRIP1):c.87G>T (p.Met29Ile) rs769585673
NM_032043.3(BRIP1):c.961G>C (p.Asp321His) rs2077992703
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe) rs771630777
NM_032043.3(BRIP1):c.979A>T (p.Thr327Ser) rs2077991975

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