ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.4983_4986del (p.Pro1660_Tyr1661insTer) rs1593904052
NM_000059.4(BRCA2):c.6100delinsTA (p.Arg2034Ter) rs1566233919
NM_000059.4(BRCA2):c.6421_6424dup (p.Ser2142fs) rs1566234560
NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro) rs2072746856
NM_000059.4(BRCA2):c.8808del (p.Asn2937fs) rs1566252592

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