ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152 0.00001
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.4829_4830del (p.Val1610fs) rs80359468
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) rs1555284103
NM_000059.4(BRCA2):c.5771_5774del (p.Ile1924fs) rs80359535
NM_000059.4(BRCA2):c.7124T>G (p.Leu2375Ter) rs886040687
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.8488-1G>A rs397507404

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