ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic for BRCA2-Related Disorders

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395 0.00003
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1138del (p.Ser380fs) rs80359264
NM_000059.4(BRCA2):c.1238del (p.Leu413fs) rs80359271
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) rs80358543
NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs) rs397507317
NM_000059.4(BRCA2):c.4808del (p.Asn1603fs) rs80359466
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198

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