ClinVar Miner

List of variants in gene combination BRCA1, LOC126862571 reported as uncertain significance by GeneDx

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) rs397507213 0.00006
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu) rs55909400 0.00006
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) rs530464947 0.00005
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser) rs80356949 0.00003
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00003
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00003
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro) rs80357483 0.00003
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser) rs80357099 0.00002
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly) rs80357263 0.00001
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr) rs786202155 0.00001
NM_007294.4(BRCA1):c.3250C>A (p.Leu1084Ile) rs879254009 0.00001
NM_007294.4(BRCA1):c.3260G>C (p.Gly1087Ala) rs80357172 0.00001
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) rs80356900 0.00001
NM_007294.4(BRCA1):c.3345A>C (p.Glu1115Asp) rs876658243 0.00001
NM_007294.4(BRCA1):c.3358G>A (p.Val1120Ile) rs748894760 0.00001
NM_007294.4(BRCA1):c.3401A>T (p.Glu1134Val) rs762744684 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn) rs80356975 0.00001
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) rs80356944 0.00001
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) rs587782458 0.00001
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val) rs273900711 0.00001
NM_007294.4(BRCA1):c.3650C>G (p.Ser1217Cys) rs398122676 0.00001
NM_007294.4(BRCA1):c.3659A>T (p.Asp1220Val) rs766572561 0.00001
NM_007294.4(BRCA1):c.3662A>C (p.Glu1221Ala) rs273900713 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp) rs145903082 0.00001
NM_007294.4(BRCA1):c.3785C>T (p.Ser1262Leu) rs80357269 0.00001
NM_007294.4(BRCA1):c.3800T>C (p.Leu1267Ser) rs587782190 0.00001
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.3889T>A (p.Ser1297Thr) rs1450793674 0.00001
NM_007294.4(BRCA1):c.3893C>T (p.Ser1298Leu) rs80357440 0.00001
NM_007294.4(BRCA1):c.3965A>C (p.Lys1322Thr) rs80357042 0.00001
NM_007294.4(BRCA1):c.3995G>T (p.Gly1332Val) rs730881490 0.00001
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val) rs775339017 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.3217G>C (p.Gly1073Arg) rs878854945
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) rs397507213
NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg) rs1555588045
NM_007294.4(BRCA1):c.3287A>G (p.Gln1096Arg) rs273899704
NM_007294.4(BRCA1):c.3308G>A (p.Cys1103Tyr) rs80357135
NM_007294.4(BRCA1):c.3316C>G (p.Pro1106Ala) rs45599040
NM_007294.4(BRCA1):c.3316C>T (p.Pro1106Ser) rs45599040
NM_007294.4(BRCA1):c.3326A>G (p.Lys1109Arg) rs2154328754
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3341AAG[3] (p.Glu1115_Val1116insGlu) rs80358336
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867
NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu) rs80356887
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His) rs1451089848
NM_007294.4(BRCA1):c.3388T>C (p.Ser1130Pro) rs2154320882
NM_007294.4(BRCA1):c.3403C>G (p.Gln1135Glu) rs80357136
NM_007294.4(BRCA1):c.3406C>T (p.Pro1136Ser) rs431825395
NM_007294.4(BRCA1):c.3409A>G (p.Met1137Val) rs771479616
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe) rs431825396
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His) rs80357175
NM_007294.4(BRCA1):c.3466G>A (p.Asp1156Asn) rs1064793302
NM_007294.4(BRCA1):c.3496G>C (p.Ala1166Pro) rs745418679
NM_007294.4(BRCA1):c.3515A>C (p.Glu1172Ala) rs80357206
NM_007294.4(BRCA1):c.3521C>G (p.Ser1174Cys) rs1055368753
NM_007294.4(BRCA1):c.3521CTG[1] (p.Ala1175del) rs1555587557
NM_007294.4(BRCA1):c.3525T>C (p.Ala1175=) rs1131692086
NM_007294.4(BRCA1):c.3526G>A (p.Val1176Ile) rs777796838
NM_007294.4(BRCA1):c.3539G>A (p.Ser1180Asn) rs1064793057
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe) rs1555587505
NM_007294.4(BRCA1):c.3586A>G (p.Thr1196Ala) rs1340335862
NM_007294.4(BRCA1):c.3587C>A (p.Thr1196Lys) rs80356944
NM_007294.4(BRCA1):c.3601G>C (p.Gly1201Arg) rs55725337
NM_007294.4(BRCA1):c.3619A>G (p.Lys1207Glu) rs80357455
NM_007294.4(BRCA1):c.3674G>A (p.Cys1225Tyr) rs1567790638
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) rs730881488
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu) rs763354142
NM_007294.4(BRCA1):c.3713C>G (p.Pro1238Arg) rs28897688
NM_007294.4(BRCA1):c.3734G>A (p.Ser1245Asn) rs1060502348
NM_007294.4(BRCA1):c.3737C>A (p.Thr1246Asn) rs878854949
NM_007294.4(BRCA1):c.3740T>C (p.Val1247Ala) rs2053534509
NM_007294.4(BRCA1):c.3751T>A (p.Cys1251Ser)
NM_007294.4(BRCA1):c.3752G>A (p.Cys1251Tyr) rs879254079
NM_007294.4(BRCA1):c.3760A>G (p.Lys1254Glu) rs80357362
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.4(BRCA1):c.3779TAT[1] (p.Leu1261del) rs1064793058
NM_007294.4(BRCA1):c.3797G>T (p.Ser1266Ile) rs80357160
NM_007294.4(BRCA1):c.3818A>T (p.Gln1273Leu) rs431825400
NM_007294.4(BRCA1):c.3830C>T (p.Ala1277Val) rs730881489
NM_007294.4(BRCA1):c.3835G>T (p.Ala1279Ser) rs80357036
NM_007294.4(BRCA1):c.3841C>G (p.Gln1281Glu) rs80356866
NM_007294.4(BRCA1):c.3845A>G (p.Glu1282Gly) rs80357217
NM_007294.4(BRCA1):c.3865A>C (p.Thr1289Pro) rs1064795449
NM_007294.4(BRCA1):c.3874T>C (p.Ser1292Pro) rs786203823
NM_007294.4(BRCA1):c.3877_3878delinsTT (p.Ala1293Phe) rs2552130085
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del) rs80358339
NM_007294.4(BRCA1):c.3889T>C (p.Ser1297Pro) rs1450793674
NM_007294.4(BRCA1):c.3890C>T (p.Ser1297Phe)
NM_007294.4(BRCA1):c.3896A>G (p.Gln1299Arg) rs876660866
NM_007294.4(BRCA1):c.3929C>T (p.Thr1310Ile) rs80357257
NM_007294.4(BRCA1):c.3938A>G (p.Gln1313Arg) rs765729710
NM_007294.4(BRCA1):c.3952A>G (p.Ile1318Val) rs397509121
NM_007294.4(BRCA1):c.3955G>A (p.Gly1319Ser) rs431825403
NM_007294.4(BRCA1):c.3962C>T (p.Ser1321Phe) rs386833394
NM_007294.4(BRCA1):c.3974G>A (p.Arg1325Lys) rs921253348
NM_007294.4(BRCA1):c.3980A>G (p.Gln1327Arg) rs730881444
NM_007294.4(BRCA1):c.3993G>C (p.Gln1331His) rs70953658
NM_007294.4(BRCA1):c.4009G>C (p.Asp1337His) rs886041144
NM_007294.4(BRCA1):c.4009G>T (p.Asp1337Tyr) rs886041144
NM_007294.4(BRCA1):c.4015G>A (p.Glu1339Lys) rs80357021
NM_007294.4(BRCA1):c.4016A>G (p.Glu1339Gly) rs886039313
NM_007294.4(BRCA1):c.4046C>G (p.Thr1349Arg) rs80357345
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys) rs748674194
NM_007294.4(BRCA1):c.4054G>C (p.Glu1352Gln) rs80357202
NM_007294.4(BRCA1):c.4055A>G (p.Glu1352Gly) rs879254228
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val) rs879254228
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del) rs80358341
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp) rs876660530
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys) rs80357456
NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val) rs80357218
NM_007294.4(BRCA1):c.4083G>A (p.Met1361Ile) rs374192364
NM_007294.4(BRCA1):c.4096+1G>C rs80358178
NM_007294.4(BRCA1):c.4096+2T>C rs1567788925
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser) rs431825405

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