ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Genomic Center, National Cancer Institute

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.1508del (p.Lys503fs) rs886038066
NM_000059.4(BRCA2):c.2514del (p.Lys838fs) rs886040433
NM_000059.4(BRCA2):c.3440del (p.Asn1147fs)
NM_000059.4(BRCA2):c.3935del (p.Asn1312fs)
NM_000059.4(BRCA2):c.3956del (p.Asn1319fs) rs2137501511
NM_000059.4(BRCA2):c.4468del (p.Ile1490fs)
NM_000059.4(BRCA2):c.4904del (p.Phe1634_Leu1635insTer) rs80359471
NM_000059.4(BRCA2):c.4997del (p.Asn1666fs)
NM_000059.4(BRCA2):c.7340del (p.Asn2447fs) rs786204281
NM_000059.4(BRCA2):c.7654del (p.Ile2552fs) rs879255463
NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)
NM_000059.4(BRCA2):c.937del (p.Ser313fs) rs2137466022
NM_000059.4(BRCA2):c.9799_9800del (p.Lys3267fs)
NM_000059.4(BRCA2):c.9981del (p.Lys3327fs)

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