ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer

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ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile) rs397507365 0.00004
NM_000059.4(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056 0.00003
NM_000059.4(BRCA2):c.1312G>T (p.Asp438Tyr) rs765436962 0.00002
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe) rs587778118 0.00002
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu) rs80358469 0.00002
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala) rs80358500 0.00002
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala) rs587782186 0.00002
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) rs587782714 0.00002
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys) rs730881549 0.00002
NM_000059.4(BRCA2):c.1217C>G (p.Ala406Gly) rs1005568368 0.00001
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431 0.00001
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr) rs730881518 0.00001
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564 0.00001
NM_000059.4(BRCA2):c.3517A>T (p.Ile1173Phe) rs431825308 0.00001
NM_000059.4(BRCA2):c.3628G>A (p.Asp1210Asn) rs774392592 0.00001
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg) rs587782795 0.00001
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu) rs587781763 0.00001
NM_000059.4(BRCA2):c.5115A>G (p.Ile1705Met) rs878853588 0.00001
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr) rs587782320 0.00001
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu) rs587782597 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6559C>T (p.Pro2187Ser) rs868216475 0.00001
NM_000059.4(BRCA2):c.7072T>C (p.Ser2358Pro) rs80358937 0.00001
NM_000059.4(BRCA2):c.7618-16T>G rs397507924 0.00001
NM_000059.4(BRCA2):c.9205T>C (p.Cys3069Arg) rs398122611 0.00001
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser) rs1329182873 0.00001
NM_000059.4(BRCA2):c.10030C>G (p.Leu3344Val) rs377155248
NM_000059.4(BRCA2):c.10159A>G (p.Thr3387Ala) rs786202571
NM_000059.4(BRCA2):c.1133G>A (p.Ser378Asn) rs1593892009
NM_000059.4(BRCA2):c.1259A>G (p.Asp420Gly) rs786201654
NM_000059.4(BRCA2):c.1490C>T (p.Ser497Leu) rs1064794018
NM_000059.4(BRCA2):c.2399G>A (p.Gly800Asp) rs276174821
NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr) rs1303254121
NM_000059.4(BRCA2):c.2620A>G (p.Thr874Ala) rs1593897363
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro) rs730881516
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser) rs80358568
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly) rs80358588
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg) rs777895333
NM_000059.4(BRCA2):c.3999C>G (p.Asn1333Lys) rs80358649
NM_000059.4(BRCA2):c.4400A>G (p.His1467Arg) rs1555283765
NM_000059.4(BRCA2):c.4410_4412delinsCAT (p.Arg1471Ile) rs786202031
NM_000059.4(BRCA2):c.4424T>C (p.Met1475Thr) rs2072503948
NM_000059.4(BRCA2):c.4516T>C (p.Phe1506Leu) rs876659011
NM_000059.4(BRCA2):c.4611A>C (p.Glu1537Asp) rs786202313
NM_000059.4(BRCA2):c.4613C>T (p.Ser1538Phe) rs754643404
NM_000059.4(BRCA2):c.4700T>G (p.Leu1567Arg)
NM_000059.4(BRCA2):c.475+4T>C rs746963311
NM_000059.4(BRCA2):c.4871C>T (p.Thr1624Ile)
NM_000059.4(BRCA2):c.4894A>C (p.Ser1632Arg) rs80358712
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg) rs786201420
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr) rs398122792
NM_000059.4(BRCA2):c.5126A>C (p.Asp1709Ala) rs786202836
NM_000059.4(BRCA2):c.5319_5342del (p.Glu1773_Glu1780del) rs1593905133
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala) rs786202394
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala) rs786202618
NM_000059.4(BRCA2):c.6145G>A (p.Val2049Met) rs1276100299
NM_000059.4(BRCA2):c.6451G>T (p.Val2151Phe)
NM_000059.4(BRCA2):c.6587A>G (p.Lys2196Arg) rs1555284764
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr) rs758379999
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe) rs786202214
NM_000059.4(BRCA2):c.6841+28T>G
NM_000059.4(BRCA2):c.6937+5A>G rs397507379
NM_000059.4(BRCA2):c.6938-4C>T
NM_000059.4(BRCA2):c.6938-6_6938-3del rs1566237728
NM_000059.4(BRCA2):c.7580T>C (p.Val2527Ala) rs587782676
NM_000059.4(BRCA2):c.758G>A (p.Ser253Asn) rs1593890321
NM_000059.4(BRCA2):c.7661G>A (p.Ser2554Asn) rs398122588
NM_000059.4(BRCA2):c.7805+4C>A rs769367815
NM_000059.4(BRCA2):c.7894G>A (p.Ala2632Thr) rs1555286844
NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met) rs1466452770
NM_000059.4(BRCA2):c.8068G>A (p.Val2690Ile) rs587776471
NM_000059.4(BRCA2):c.8123C>T (p.Thr2708Ile) rs1566245492
NM_000059.4(BRCA2):c.8535A>C (p.Arg2845Ser)
NM_000059.4(BRCA2):c.8791A>G (p.Asn2931Asp) rs895758995
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met) rs1064793691
NM_000059.4(BRCA2):c.8875G>A (p.Glu2959Lys) rs786202920
NM_000059.4(BRCA2):c.8897T>C (p.Val2966Ala) rs876658955
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg) rs80359206
NM_000059.4(BRCA2):c.9391T>C (p.Ser3131Pro) rs398122613
NM_000059.4(BRCA2):c.9981del (p.Lys3327fs) rs1328254546

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