ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Sharing Clinical Reports Project (SCRP)

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.1907C>G (p.Ser636Ter) rs431825288
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8632+1G>A rs397507997
NM_000059.4(BRCA2):c.8632+1G>T rs397507997
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775

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