ClinVar Miner

List of variants in gene combination BRCA1, LOC126862571 reported as not provided for breast carcinoma

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3228A>T (p.Arg1076Ser) rs397509048
NM_007294.4(BRCA1):c.3289del (p.Ser1097fs) rs80357686
NM_007294.4(BRCA1):c.3359_3363del (p.Val1120fs) rs397509060
NM_007294.4(BRCA1):c.3413del (p.Gly1138fs) rs397509063
NM_007294.4(BRCA1):c.3416del (p.Ser1139fs) rs397509064
NM_007294.4(BRCA1):c.3420dup (p.His1141fs) rs397509065
NM_007294.4(BRCA1):c.3450del (p.Asp1151fs) rs397509068
NM_007294.4(BRCA1):c.3450dup (p.Asp1151Ter) rs397509069
NM_007294.4(BRCA1):c.3468del (p.Asp1156fs) rs397509070
NM_007294.4(BRCA1):c.3479_3488del (p.Lys1160fs) rs397509073
NM_007294.4(BRCA1):c.3481del (p.Glu1161fs) rs397509074
NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile) rs397509075
NM_007294.4(BRCA1):c.3505_3509del (p.Asn1168_Asp1169insTer) rs397509078
NM_007294.4(BRCA1):c.3540_3541del (p.Val1181fs) rs397509080
NM_007294.4(BRCA1):c.3549_3550del (p.Gly1184fs) rs730882057
NM_007294.4(BRCA1):c.3575_3576insAA (p.Phe1193fs) rs397509082
NM_007294.4(BRCA1):c.3613G>C (p.Gly1205Arg) rs80357294
NM_007294.4(BRCA1):c.3621_3626delinsAA (p.Leu1209fs) rs397509087
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs) rs80357571
NM_007294.4(BRCA1):c.3647T>G (p.Leu1216Ter) rs397509091
NM_007294.4(BRCA1):c.3649dup (p.Ser1217fs) rs1555587345
NM_007294.4(BRCA1):c.3715del (p.Ser1239fs) rs397509096
NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs) rs397509097
NM_007294.4(BRCA1):c.3722C>G (p.Ser1241Cys) rs80357143
NM_007294.4(BRCA1):c.3758C>A (p.Ser1253Tyr) rs397509100
NM_007294.4(BRCA1):c.3771_3778del (p.Glu1257fs) rs397509104
NM_007294.4(BRCA1):c.3772G>T (p.Glu1258Ter) rs397509105
NM_007294.4(BRCA1):c.3782T>G (p.Leu1261Ter) rs397507219
NM_007294.4(BRCA1):c.3822_3823insT (p.Ile1275fs) rs397509111
NM_007294.4(BRCA1):c.3829G>C (p.Ala1277Pro) rs397509112
NM_007294.4(BRCA1):c.3871_3872insC (p.Cys1291fs) rs397509114
NM_007294.4(BRCA1):c.3876del (p.Ala1293fs) rs397509115
NM_007294.4(BRCA1):c.3880_3883del (p.Ser1294fs) rs397509116
NM_007294.4(BRCA1):c.3927_3930del (p.Asn1309fs) rs397509120
NM_007294.4(BRCA1):c.3982dup (p.Ser1328fs) rs397509124
NM_007294.4(BRCA1):c.3999del (p.Gly1334fs) rs397509125
NM_007294.4(BRCA1):c.4029TGA[1] (p.Asp1344del) rs397509129
NM_007294.4(BRCA1):c.4072G>A (p.Glu1358Lys) rs397509136
NM_007294.4(BRCA1):c.4094del (p.Asn1364_Leu1365insTer) rs397509138
NM_007294.4(BRCA1):c.4097-141A>C rs799916

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.