ClinVar Miner

List of variants in gene BRIP1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409 0.00007
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294 0.00005
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His) rs587782244 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 0.00004
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe) rs770306753 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.2189G>A (p.Gly730Glu) rs748616469 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032043.3(BRIP1):c.1444A>G (p.Ile482Val) rs142744352 0.00003
NM_032043.3(BRIP1):c.1499A>G (p.Lys500Arg) rs746329838 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004 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+8G>C rs772953115 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972 0.00002
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu) rs587780831 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.638A>G (p.His213Arg) rs376760085 0.00002
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00002
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln) rs758360637 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala) rs62620988 0.00002
NM_032043.3(BRIP1):c.-6A>C rs1442433909 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg) rs373104267 0.00001
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His) rs730881632 0.00001
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe) rs786202637 0.00001
NM_032043.3(BRIP1):c.1198G>T (p.Asp400Tyr) rs764711572 0.00001
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747 0.00001
NM_032043.3(BRIP1):c.1357G>A (p.Ala453Thr) rs587780227 0.00001
NM_032043.3(BRIP1):c.1375A>G (p.Arg459Gly) rs752052351 0.00001
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met) rs587780230 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.1532A>G (p.Glu511Gly) rs1555603565 0.00001
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val) rs876658383 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.1936-7A>T rs1427111542 0.00001
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013 0.00001
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala) rs769820537 0.00001
NM_032043.3(BRIP1):c.2071A>C (p.Ile691Leu) rs587782356 0.00001
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile) rs145616741 0.00001
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2345T>C (p.Ile782Thr) rs778758437 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.2441G>A (p.Arg814His) rs45468199 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2569A>G (p.Ile857Val) rs28904918 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln) rs876659099 0.00001
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679 0.00001
NM_032043.3(BRIP1):c.2867C>T (p.Ser956Leu) rs761639530 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile) rs1060501762 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505 0.00001
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile) rs786204068 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3388A>G (p.Ile1130Val) rs786202549 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu) rs45603843 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032043.3(BRIP1):c.679C>G (p.Gln227Glu) rs45459799 0.00001
NC_000017.10:g.[(59861786_59870957)_(59886119_59924461)dup;(?_59870952)_(59886124_?)dup]
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.-4C>T rs2145866620
NM_032043.3(BRIP1):c.104G>T (p.Gly35Val) rs876659168
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=) rs1555607195
NM_032043.3(BRIP1):c.121C>G (p.His41Asp) rs770930270
NM_032043.3(BRIP1):c.1271G>A (p.Ser424Asn) rs1354610577
NM_032043.3(BRIP1):c.1277T>G (p.Val426Gly) rs1567829202
NM_032043.3(BRIP1):c.1341-8_1341-4del rs1555605965
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) rs771861055
NM_032043.3(BRIP1):c.1401A>G (p.Ile467Met) rs764979728
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.3(BRIP1):c.1473+27C>G
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.3(BRIP1):c.1509A>C (p.Lys503Asn) rs1443429619
NM_032043.3(BRIP1):c.1547T>A (p.Val516Glu) rs2077670264
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.3(BRIP1):c.1582A>G (p.Lys528Glu) rs748962730
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe) rs1326418771
NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg) rs1567813893
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro) rs1603334713
NM_032043.3(BRIP1):c.1687_1689del (p.Asp563del) rs780590493
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr) rs1555602215
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His) rs1567812636
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe) rs1464898721
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.3(BRIP1):c.183A>T (p.Leu61Phe) rs1555618384
NM_032043.3(BRIP1):c.1840T>G (p.Ser614Ala)
NM_032043.3(BRIP1):c.1850T>C (p.Leu617Ser) rs1064794095
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu) rs765314472
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala) rs746066323
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=) rs786203170
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.3(BRIP1):c.1987A>G (p.Thr663Ala) rs1567808933
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.20A>T (p.Glu7Val)
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser) rs876658270
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp) rs1060501745
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr) rs1357919929
NM_032043.3(BRIP1):c.2232C>G (p.Asp744Glu) rs374362388
NM_032043.3(BRIP1):c.2243A>G (p.Tyr748Cys) rs2144695357
NM_032043.3(BRIP1):c.2258-3A>G rs786203561
NM_032043.3(BRIP1):c.2290A>G (p.Lys764Glu) rs1603303860
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys) rs375146450
NM_032043.3(BRIP1):c.2329C>T (p.Arg777Cys) rs768555161
NM_032043.3(BRIP1):c.232G>C (p.Glu78Gln) rs2145830931
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu) rs2144675861
NM_032043.3(BRIP1):c.2398T>C (p.Tyr800His) rs1305107535
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.3(BRIP1):c.2447G>T (p.Trp816Leu) rs786204250
NM_032043.3(BRIP1):c.2493-10T>A rs776255327
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His) rs2061476921
NM_032043.3(BRIP1):c.2573C>T (p.Ser858Phe) rs1064793893
NM_032043.3(BRIP1):c.2576-3T>C rs2144119000
NM_032043.3(BRIP1):c.258_269del (p.Cys87_Cys90del) rs730881648
NM_032043.3(BRIP1):c.2684C>A (p.Ser895Tyr) rs1555573437
NM_032043.3(BRIP1):c.2692G>A (p.Asp898Asn) rs2144114911
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met) rs1219152456
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala) rs4988356
NM_032043.3(BRIP1):c.2870C>T (p.Pro957Leu) rs786203077
NM_032043.3(BRIP1):c.28A>C (p.Ile10Leu)
NM_032043.3(BRIP1):c.2906-61A>G rs797045415
NM_032043.3(BRIP1):c.2932G>C (p.Gly978Arg) rs2061326304
NM_032043.3(BRIP1):c.2974A>G (p.Thr992Ala) rs1276811545
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu) rs201617644
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.3(BRIP1):c.3025G>A (p.Gly1009Arg) rs587781328
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg) rs1006002613
NM_032043.3(BRIP1):c.3342G>C (p.Gln1114His) rs2144079516
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) rs745344948
NM_032043.3(BRIP1):c.3386C>T (p.Ser1129Phe)
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.3424A>G (p.Thr1142Ala) rs2061307605
NM_032043.3(BRIP1):c.3435A>C (p.Glu1145Asp) rs876660035
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
NM_032043.3(BRIP1):c.3449C>G (p.Ala1150Gly) rs1064796059
NM_032043.3(BRIP1):c.3503A>C (p.Lys1168Thr) rs749589266
NM_032043.3(BRIP1):c.3514G>T (p.Glu1172Ter)
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.3607_3608delinsAT (p.Glu1203Ile) rs587782615
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys) rs1260819959
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys) rs876658860
NM_032043.3(BRIP1):c.38T>C (p.Val13Ala) rs1555618729
NM_032043.3(BRIP1):c.408A>C (p.Ala136=) rs876660891
NM_032043.3(BRIP1):c.419C>T (p.Ala140Val)
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.508-10G>C rs2078749443
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032043.3(BRIP1):c.611_613del (p.Ser204del) rs1060501731
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032043.3(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.644C>A (p.Ser215Tyr) rs12947398
NM_032043.3(BRIP1):c.644C>T (p.Ser215Phe) rs12947398
NM_032043.3(BRIP1):c.67C>G (p.Pro23Ala) rs1603368425
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.3(BRIP1):c.758A>G (p.His253Arg) rs2078112284
NM_032043.3(BRIP1):c.76C>G (p.Leu26Val)
NM_032043.3(BRIP1):c.774G>A (p.Gln258=) rs1198536492
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser) rs61754143
NM_032043.3(BRIP1):c.918+9A>G rs2145410020
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr) rs1567832184
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.969C>G (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe) rs771630777
NM_032043.3(BRIP1):c.993G>A (p.Met331Ile) rs587780252

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