ClinVar Miner

List of variants in gene BRCA2 studied for BRCA2-Related Disorders

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Total variants: 49
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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.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu) rs80358830 0.00002
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.3904A>G (p.Thr1302Ala) rs543339423 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala) rs587781965 0.00001
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg) rs1064795508 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.1292C>T (p.Thr431Ile) rs876660828
NM_000059.4(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.4(BRCA2):c.1408dup (p.Glu470fs) rs80359284
NM_000059.4(BRCA2):c.1411G>A (p.Glu471Lys) rs80358428
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln) rs587782737
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser) rs876661089
NM_000059.4(BRCA2):c.2701del (p.Ala902fs) rs397507637
NM_000059.4(BRCA2):c.2978G>A (p.Trp993Ter) rs80358543
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.3848dup (p.Ser1284fs) rs397507317
NM_000059.4(BRCA2):c.4163_4164delinsA (p.Thr1388fs) rs276174843
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys) rs28897726
NM_000059.4(BRCA2):c.4448_4449del (p.Thr1483fs) rs1566230322
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.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr) rs28897738
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.6941C>A (p.Thr2314Lys) rs1177474377
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7658del (p.Asn2553fs) rs2072708512
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
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.9523G>T (p.Glu3175Ter) rs397507430
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His) rs80359256

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