ClinVar Miner

List of variants in gene combination BRCA1, LOC126862571 reported as likely pathogenic for not provided

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.3255del (p.Arg1085fs) rs2053619372
NM_007294.4(BRCA1):c.3301dup (p.Ser1101fs)
NM_007294.4(BRCA1):c.3307_3308insC (p.Cys1103fs) rs1555587988
NM_007294.4(BRCA1):c.3334del (p.Glu1112fs) rs1555587944
NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs) rs1567792067
NM_007294.4(BRCA1):c.3342del (p.Glu1115fs)
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) rs1555587638
NM_007294.4(BRCA1):c.3612del (p.Ala1206fs) rs80357980
NM_007294.4(BRCA1):c.3619A>T (p.Lys1207Ter) rs80357455
NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs) rs80357671
NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs) rs80359882
NM_007294.4(BRCA1):c.3791del (p.Lys1264fs) rs1567790067
NM_007294.4(BRCA1):c.3851del (p.His1284fs)
NM_007294.4(BRCA1):c.3941_3942insC (p.Pro1315fs)
NM_007294.4(BRCA1):c.4019T>A (p.Leu1340Ter) rs2053483708
NM_007294.4(BRCA1):c.4074dup (p.Gln1359fs) rs2053472498

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