ClinVar Miner

List of variants in gene BRCA2 reported by Clinical Genetics and Genomics, Karolinska University Hospital

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Gene type:
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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9097_9098insT (p.Thr3033fs) rs1555288494 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.6065C>G (p.Ser2022Ter) rs80358843 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1818_1819del (p.Lys607fs) rs2072423291
NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter) rs397507624
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2476G>T (p.Glu826Ter) rs1566226803
NM_000059.4(BRCA2):c.2653_2656del (p.Asp885fs) rs80359340
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter) rs886040480
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.4(BRCA2):c.4677del (p.Phe1559fs) rs1064794708
NM_000059.4(BRCA2):c.480_489del (p.Gly162fs) rs2072346061
NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.537dup (p.Ile180fs) rs1566219199
NM_000059.4(BRCA2):c.538_539del (p.Ile180fs) rs80359510
NM_000059.4(BRCA2):c.5425del (p.Cys1809fs) rs2072529051
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5754_5755del (p.His1918fs) rs397507803
NM_000059.4(BRCA2):c.5790dup (p.Gln1931fs) rs2072538550
NM_000059.4(BRCA2):c.5823del (p.Val1942fs) rs80359540
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6058G>T (p.Glu2020Ter) rs80358842
NM_000059.4(BRCA2):c.6059_6062del (p.Glu2020fs) rs398122546
NM_000059.4(BRCA2):c.6318del (p.Pro2107fs) rs2072552105
NM_000059.4(BRCA2):c.6393_6396del (p.Lys2131fs) rs397507849
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6444_6447del (p.Ile2149fs) rs80359591
NM_000059.4(BRCA2):c.6444del (p.Ile2149fs) rs398122557
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7025_7026del (p.Gln2342fs) rs80359634
NM_000059.4(BRCA2):c.743del (p.Ala248fs) rs886040708
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.778G>T (p.Glu260Ter) rs2072387354
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8195_8202del (p.Leu2732fs) rs886040749
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8513T>G (p.Leu2838Ter) rs886040779
NM_000059.4(BRCA2):c.8655dup (p.Pro2886fs) rs1135401927
NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs) rs80359724
NM_000059.4(BRCA2):c.8695C>T (p.Gln2899Ter) rs397507411
NM_000059.4(BRCA2):c.8796del (p.His2932fs) rs766145981
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8987T>A (p.Leu2996Ter) rs864622200
NM_000059.4(BRCA2):c.9109C>T (p.Gln3037Ter) rs397508037
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9302del (p.Leu3101fs) rs2073021354
NM_000059.4(BRCA2):c.9352_9353del (p.Met3118fs) rs786203318
NM_000059.4(BRCA2):c.9408del (p.Thr3137fs) rs80359761
NM_000059.4(BRCA2):c.9507del (p.Ile3169fs) rs80359767
NM_000059.4(BRCA2):c.956dup (p.Asn319fs) rs80359770
NM_000059.4(BRCA2):c.9580_9581del (p.Pro3194fs) rs80359771
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9800dup (p.Arg3268fs) rs1566261027
NM_000059.4:c.476_516del

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