ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.2676_2677del (p.Phe892fs) rs2137488835
NM_000059.4(BRCA2):c.316+797_476-24del
NM_000059.4(BRCA2):c.3308T>G (p.Leu1103Ter) rs397507305
NM_000059.4(BRCA2):c.4361_4368delinsTCAGAT (p.Pro1454fs)
NM_000059.4(BRCA2):c.4376dup (p.Asn1459fs) rs1555283752
NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) rs2072507154
NM_000059.4(BRCA2):c.765_769del (p.Asn255fs) rs2072386817
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.945_947del (p.Cys315_Arg316delinsTer)
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775

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