ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1568del (p.Leu523fs) rs1555591543
NM_007294.4(BRCA1):c.1684dup (p.Ile562fs) rs2053901114
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs) rs886038003
NM_007294.4(BRCA1):c.2649_2650insGGCT (p.Thr884fs) rs2053722405
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs) rs80357636
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914

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