ClinVar Miner

List of variants in gene BRCA1 reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844 0.00147
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_007294.4(BRCA1):c.212+16A>G rs1057522049 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856 0.00001
NM_007294.4(BRCA1):c.4764T>C (p.Ala1588=) rs753651115 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007294.4(BRCA1):c.1081T>G (p.Ser361Ala) rs80356946
NM_007294.4(BRCA1):c.1525A>G (p.Thr509Ala) rs1238203770
NM_007294.4(BRCA1):c.1643T>G (p.Ile548Ser) rs2154432348
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn) rs757579891
NM_007294.4(BRCA1):c.5167A>G (p.Ile1723Val) rs1426821558
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153

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