ClinVar Miner

List of variants in gene combination BRCA1, LOC126862571 reported by Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) rs80357509 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) rs80357729 0.00001
NM_007294.4(BRCA1):c.3998T>C (p.Val1333Ala) rs1135401872 0.00001
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3239T>A (p.Leu1080Ter) rs80357145
NM_007294.4(BRCA1):c.3247_3251del (p.Ala1082_Met1083insTer) rs1135401859
NM_007294.4(BRCA1):c.3253dup (p.Arg1085fs) rs80357517
NM_007294.4(BRCA1):c.3254_3255dup (p.Leu1086fs) rs80357624
NM_007294.4(BRCA1):c.3254_3255insGA (p.Leu1086fs) rs80357625
NM_007294.4(BRCA1):c.3255dup (p.Leu1086fs) rs1555588090
NM_007294.4(BRCA1):c.3256_3257insGA (p.Leu1086Ter) rs80357764
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter) rs80357006
NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs) rs80357686
NM_007294.4(BRCA1):c.3296del (p.Pro1099fs) rs80357815
NM_007294.4(BRCA1):c.3309T>A (p.Cys1103Ter) rs80357317
NM_007294.4(BRCA1):c.3319G>T (p.Glu1107Ter) rs80357106
NM_007294.4(BRCA1):c.3329_3330del (p.Lys1110fs) rs80357525
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.4(BRCA1):c.3333_3336del (p.Gln1111fs) rs397509057
NM_007294.4(BRCA1):c.3333del (p.Glu1112fs) rs80357966
NM_007294.4(BRCA1):c.3340G>T (p.Glu1114Ter) rs80357278
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) rs80357945
NM_007294.4(BRCA1):c.3362del (p.Asn1121fs) rs80357865
NM_007294.4(BRCA1):c.3365_3366del (p.Thr1122fs) rs80357892
NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter) rs80357405
NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) rs80357018
NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) rs80357136
NM_007294.4(BRCA1):c.3414_3415insG (p.Ser1139fs) rs1135401860
NM_007294.4(BRCA1):c.3479del (p.Lys1160fs) rs273899707
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3481_3492del (p.Glu1161_Ser1164del) rs1555587590
NM_007294.4(BRCA1):c.3481_3493del (p.Glu1161fs) rs1555587588
NM_007294.4(BRCA1):c.3488C>T (p.Thr1163Ile) rs80356918
NM_007294.4(BRCA1):c.3512del (p.Lys1171fs) rs886040139
NM_007294.4(BRCA1):c.3544C>T (p.Gln1182Ter) rs80357296
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.4(BRCA1):c.3629dup (p.Ser1211fs) rs886040154
NM_007294.4(BRCA1):c.3637G>T (p.Glu1213Ter) rs1135401864
NM_007294.4(BRCA1):c.3647T>A (p.Leu1216Ter) rs397509091
NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs) rs80357902
NM_007294.4(BRCA1):c.3649_3650insA (p.Ser1217fs) rs80357831
NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) rs80357310
NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) rs80357356
NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) rs80357797
NM_007294.4(BRCA1):c.3695_3698del (p.Gly1232fs) rs397509093
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs) rs80357552
NM_007294.4(BRCA1):c.3710del (p.Ile1237fs) rs80357564
NM_007294.4(BRCA1):c.3711_3715del (p.Pro1238fs) rs1135401865
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.4(BRCA1):c.3747dup (p.Glu1250fs) rs1555587185
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3754_3755del (p.Leu1252fs) rs1135401866
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) rs80357687
NM_007294.4(BRCA1):c.3760_3761insT (p.Lys1254fs) rs80357986
NM_007294.4(BRCA1):c.3761_3762insTT (p.Lys1254fs) rs80357928
NM_007294.4(BRCA1):c.3764dup (p.Asn1255fs) rs80357848
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3772_3776del (p.Glu1258fs) rs1135401867
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs) rs80357767
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter) rs80357208
NM_007294.4(BRCA1):c.3833del (p.Lys1278fs) rs1135401868
NM_007294.4(BRCA1):c.3841C>T (p.Gln1281Ter) rs80356866
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter) rs80357254
NM_007294.4(BRCA1):c.3870_3871insC (p.Cys1291fs) rs1135401869
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer) rs80357646
NM_007294.4(BRCA1):c.3904G>T (p.Glu1302Ter) rs80357461
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.3931_3934del (p.Asn1311fs) rs80357864
NM_007294.4(BRCA1):c.3937C>T (p.Gln1313Ter) rs80357318
NM_007294.4(BRCA1):c.3954del (p.Ile1318fs) rs1135401870
NM_007294.4(BRCA1):c.3956_3957del (p.Gly1319fs) rs1135401871
NM_007294.4(BRCA1):c.3966del (p.Lys1322fs) rs80357979
NM_007294.4(BRCA1):c.3967C>T (p.Gln1323Ter) rs80357262
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4036del (p.Glu1346fs) rs886040189
NM_007294.4(BRCA1):c.4041_4042del (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.4049dup (p.Glu1352fs) rs397509131
NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs) rs397509134
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4066_4069del (p.Gln1356fs) rs397509135
NM_007294.4(BRCA1):c.4072G>T (p.Glu1358Ter) rs397509136

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