ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.6592G>T (p.Glu2198Ter) rs1555284766
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.7976+1G>T rs81002873
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.9117_9117+11del rs1593937758
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9789_9790del (p.Asn3264fs) rs886040851
NM_000059.4(BRCA2):c.9868del (p.Val3290fs) rs80359776

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