ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance for bone marrow disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.340+616C>T rs544465283 0.00006
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.340+705G>A rs1411141967 0.00003
NM_000551.4(VHL):c.427G>C (p.Asp143His) rs372757722 0.00003
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.526A>G (p.Arg176Gly) rs1575932259 0.00002
NM_000551.4(VHL):c.590A>C (p.Asp197Ala) rs752940316 0.00002
NM_000551.4(VHL):c.605C>T (p.Thr202Ile) rs779514074 0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 0.00002
NM_000551.4(VHL):c.340+581A>G rs968298760 0.00001
NM_000551.4(VHL):c.340+594G>T rs1235225768 0.00001
NM_000551.4(VHL):c.340+615C>T rs961184868 0.00001
NM_000551.4(VHL):c.340+618T>G rs1379155896 0.00001
NM_000551.4(VHL):c.340+638C>G rs973712723 0.00001
NM_000551.4(VHL):c.340+685T>A rs1696160690 0.00001
NM_000551.4(VHL):c.340+700C>G rs778132298 0.00001
NM_000551.4(VHL):c.340+752G>A rs1696163031 0.00001
NM_000551.4(VHL):c.340+805C>G rs1696164445 0.00001
NM_000551.4(VHL):c.340+812G>C rs1696164675 0.00001
NM_000551.4(VHL):c.340+816A>C rs1031288121 0.00001
NM_000551.4(VHL):c.340+825C>T rs1156980093 0.00001
NM_000551.4(VHL):c.340+828A>G rs570619659 0.00001
NM_000551.4(VHL):c.340+829C>T rs907291243 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.341-8C>G rs1272767361 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.440T>C (p.Ile147Thr) rs1060503555 0.00001
NM_000551.4(VHL):c.464-3C>T rs904414377 0.00001
NM_000551.4(VHL):c.513G>T (p.Lys171Asn) rs1365445365 0.00001
NM_000551.4(VHL):c.528G>T (p.Arg176Ser) rs762748790 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) rs768390987 0.00001
NM_000551.4(VHL):c.565G>A (p.Glu189Lys) rs762790375 0.00001
NM_000551.4(VHL):c.578A>G (p.Asn193Ser) rs879254225 0.00001
NM_000551.4(VHL):c.596A>C (p.Glu199Ala) rs760690217 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.608A>G (p.Gln203Arg) rs1270568049 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NC_000003.11:g.(?_10183526)_(10191655_?)dup
NC_000003.11:g.(?_10188188)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191659_?)dup
NC_000003.11:g.(?_10191471)_(10195354_?)dup
NM_000551.4(VHL):c.*7C>G rs778005138
NM_000551.4(VHL):c.340+575G>T rs2125125827
NM_000551.4(VHL):c.340+576T>C
NM_000551.4(VHL):c.340+576T>G
NM_000551.4(VHL):c.340+577C>T
NM_000551.4(VHL):c.340+581A>C rs968298760
NM_000551.4(VHL):c.340+583G>C rs2125125847
NM_000551.4(VHL):c.340+584A>T
NM_000551.4(VHL):c.340+587C>G rs1488349413
NM_000551.4(VHL):c.340+588C>A rs1696158160
NM_000551.4(VHL):c.340+589A>C rs2125125850
NM_000551.4(VHL):c.340+590G>C rs1696158201
NM_000551.4(VHL):c.340+591T>A
NM_000551.4(VHL):c.340+591T>C
NM_000551.4(VHL):c.340+592G>A rs1696158247
NM_000551.4(VHL):c.340+598G>A rs2125125857
NM_000551.4(VHL):c.340+599T>A
NM_000551.4(VHL):c.340+601C>T
NM_000551.4(VHL):c.340+603G>C
NM_000551.4(VHL):c.340+605G>A rs1696158642
NM_000551.4(VHL):c.340+605G>C rs1696158642
NM_000551.4(VHL):c.340+605G>T rs1696158642
NM_000551.4(VHL):c.340+606T>A
NM_000551.4(VHL):c.340+607A>G rs2125125866
NM_000551.4(VHL):c.340+608del rs1696158689
NM_000551.4(VHL):c.340+613T>C
NM_000551.4(VHL):c.340+613dup rs2125125871
NM_000551.4(VHL):c.340+614G>T rs2125125873
NM_000551.4(VHL):c.340+614del rs2125125876
NM_000551.4(VHL):c.340+615C>A rs961184868
NM_000551.4(VHL):c.340+617C>G rs1575923261
NM_000551.4(VHL):c.340+617C>T rs1575923261
NM_000551.4(VHL):c.340+619C>T rs1319443909
NM_000551.4(VHL):c.340+622G>A rs2125125888
NM_000551.4(VHL):c.340+623G>A rs2125125891
NM_000551.4(VHL):c.340+625G>A rs2125125893
NM_000551.4(VHL):c.340+627A>C rs1696159189
NM_000551.4(VHL):c.340+628C>T
NM_000551.4(VHL):c.340+629A>G
NM_000551.4(VHL):c.340+630C>T rs2125125896
NM_000551.4(VHL):c.340+630_340+631del rs1696159237
NM_000551.4(VHL):c.340+633del rs2125125902
NM_000551.4(VHL):c.340+634C>A rs1461514639
NM_000551.4(VHL):c.340+635C>T rs2125125908
NM_000551.4(VHL):c.340+637C>A rs1696159418
NM_000551.4(VHL):c.340+637C>T
NM_000551.4(VHL):c.340+638C>T rs973712723
NM_000551.4(VHL):c.340+641G>C rs1422221693
NM_000551.4(VHL):c.340+641_340+642insCTCC
NM_000551.4(VHL):c.340+643G>A rs1165627970
NM_000551.4(VHL):c.340+643G>T rs1165627970
NM_000551.4(VHL):c.340+647C>G rs929633840
NM_000551.4(VHL):c.340+649G>C rs1696159926
NM_000551.4(VHL):c.340+650A>C
NM_000551.4(VHL):c.340+650A>T rs2125125925
NM_000551.4(VHL):c.340+651C>T rs1251375973
NM_000551.4(VHL):c.340+652A>C rs1696160044
NM_000551.4(VHL):c.340+654A>G
NM_000551.4(VHL):c.340+655T>C rs2125125937
NM_000551.4(VHL):c.340+657C>G rs987014948
NM_000551.4(VHL):c.340+658A>G
NM_000551.4(VHL):c.340+663C>T rs1272443616
NM_000551.4(VHL):c.340+664A>G
NM_000551.4(VHL):c.340+665G>A rs1696160266
NM_000551.4(VHL):c.340+665G>C rs1696160266
NM_000551.4(VHL):c.340+666del rs2125125944
NM_000551.4(VHL):c.340+666dup
NM_000551.4(VHL):c.340+668A>G rs2125125949
NM_000551.4(VHL):c.340+668dup rs2125125946
NM_000551.4(VHL):c.340+669C>T rs2125125953
NM_000551.4(VHL):c.340+670A>G rs2125125958
NM_000551.4(VHL):c.340+672G>T rs1696160349
NM_000551.4(VHL):c.340+673C>G
NM_000551.4(VHL):c.340+674C>T rs1696160438
NM_000551.4(VHL):c.340+677G>A rs2125125965
NM_000551.4(VHL):c.340+681A>T rs1696160604
NM_000551.4(VHL):c.340+682T>C rs1696160646
NM_000551.4(VHL):c.340+687G>A rs2125125975
NM_000551.4(VHL):c.340+688C>G
NM_000551.4(VHL):c.340+689G>T
NM_000551.4(VHL):c.340+689del
NM_000551.4(VHL):c.340+690C>A
NM_000551.4(VHL):c.340+690C>T
NM_000551.4(VHL):c.340+691C>T rs1041395081
NM_000551.4(VHL):c.340+692G>A rs943884473
NM_000551.4(VHL):c.340+692G>C rs943884473
NM_000551.4(VHL):c.340+692G>T rs943884473
NM_000551.4(VHL):c.340+693G>A rs2125125987
NM_000551.4(VHL):c.340+693_340+698del rs1369151672
NM_000551.4(VHL):c.340+693del
NM_000551.4(VHL):c.340+694A>G rs1441240589
NM_000551.4(VHL):c.340+695_340+702dup rs1381868678
NM_000551.4(VHL):c.340+695del rs2125125992
NM_000551.4(VHL):c.340+696G>A rs1353527753
NM_000551.4(VHL):c.340+696G>T rs1353527753
NM_000551.4(VHL):c.340+700C>A
NM_000551.4(VHL):c.340+700_340+701insCTTCC rs2125125995
NM_000551.4(VHL):c.340+701G>C rs1039517619
NM_000551.4(VHL):c.340+702_340+705del rs2125125997
NM_000551.4(VHL):c.340+702del
NM_000551.4(VHL):c.340+704C>T rs1696161517
NM_000551.4(VHL):c.340+705G>C rs1411141967
NM_000551.4(VHL):c.340+706T>A rs1696161617
NM_000551.4(VHL):c.340+706T>G rs1696161617
NM_000551.4(VHL):c.340+709G>T rs935892552
NM_000551.4(VHL):c.340+710T>C
NM_000551.4(VHL):c.340+710T>G rs2125126011
NM_000551.4(VHL):c.340+712G>T rs1696161869
NM_000551.4(VHL):c.340+713C>A rs1432659600
NM_000551.4(VHL):c.340+715T>G rs2125126018
NM_000551.4(VHL):c.340+716G>A rs1696162086
NM_000551.4(VHL):c.340+720A>G rs2125126022
NM_000551.4(VHL):c.340+722T>C rs1696162133
NM_000551.4(VHL):c.340+725A>G rs2125126029
NM_000551.4(VHL):c.340+726C>G rs1575923399
NM_000551.4(VHL):c.340+726C>T rs1575923399
NM_000551.4(VHL):c.340+728T>C rs1696162498
NM_000551.4(VHL):c.340+729A>C rs2125126034
NM_000551.4(VHL):c.340+730C>A rs548008573
NM_000551.4(VHL):c.340+731C>T
NM_000551.4(VHL):c.340+732T>G rs1696162641
NM_000551.4(VHL):c.340+733G>A rs2125126040
NM_000551.4(VHL):c.340+733G>C rs2125126040
NM_000551.4(VHL):c.340+733G>T rs2125126040
NM_000551.4(VHL):c.340+735C>G
NM_000551.4(VHL):c.340+735C>T
NM_000551.4(VHL):c.340+739T>G rs2125126047
NM_000551.4(VHL):c.340+742G>C rs186099278
NM_000551.4(VHL):c.340+744G>A
NM_000551.4(VHL):c.340+746T>C rs2125126051
NM_000551.4(VHL):c.340+746dup rs2125126052
NM_000551.4(VHL):c.340+747G>A rs2125126053
NM_000551.4(VHL):c.340+748G>A rs2125126056
NM_000551.4(VHL):c.340+750G>C rs751861959
NM_000551.4(VHL):c.340+751G>C
NM_000551.4(VHL):c.340+751G>T rs1696162976
NM_000551.4(VHL):c.340+753G>A rs2125126065
NM_000551.4(VHL):c.340+753G>C rs2125126065
NM_000551.4(VHL):c.340+753dup rs2125126061
NM_000551.4(VHL):c.340+754T>A
NM_000551.4(VHL):c.340+754T>C rs1696163085
NM_000551.4(VHL):c.340+755T>A rs1696163129
NM_000551.4(VHL):c.340+755del
NM_000551.4(VHL):c.340+756G>C rs1696163184
NM_000551.4(VHL):c.340+756G>T rs1696163184
NM_000551.4(VHL):c.340+757dup
NM_000551.4(VHL):c.340+758G>A rs2125126071
NM_000551.4(VHL):c.340+759G>A
NM_000551.4(VHL):c.340+760T>C rs1696163288
NM_000551.4(VHL):c.340+761T>C
NM_000551.4(VHL):c.340+762G>A rs1696163332
NM_000551.4(VHL):c.340+763T>C rs1696163399
NM_000551.4(VHL):c.340+766G>A
NM_000551.4(VHL):c.340+767G>C rs1696163478
NM_000551.4(VHL):c.340+770T>A rs1346312258
NM_000551.4(VHL):c.340+771C>T
NM_000551.4(VHL):c.340+777A>G rs2125126081
NM_000551.4(VHL):c.340+779G>A rs1696163737
NM_000551.4(VHL):c.340+779G>C rs1696163737
NM_000551.4(VHL):c.340+781G>A rs2125126088
NM_000551.4(VHL):c.340+784C>T rs1696163787
NM_000551.4(VHL):c.340+787C>A rs2125126091
NM_000551.4(VHL):c.340+787C>T rs2125126091
NM_000551.4(VHL):c.340+788C>G rs1282958900
NM_000551.4(VHL):c.340+789C>T rs1241756327
NM_000551.4(VHL):c.340+789del
NM_000551.4(VHL):c.340+790G>T rs527534541
NM_000551.4(VHL):c.340+793G>A rs2125126106
NM_000551.4(VHL):c.340+795A>G rs1696164115
NM_000551.4(VHL):c.340+795del
NM_000551.4(VHL):c.340+797G>C rs1696164222
NM_000551.4(VHL):c.340+797G>T rs1696164222
NM_000551.4(VHL):c.340+798A>C
NM_000551.4(VHL):c.340+799A>C
NM_000551.4(VHL):c.340+799AG[2] rs1312220751
NM_000551.4(VHL):c.340+804G>C rs1696164389
NM_000551.4(VHL):c.340+806A>T rs1696164489
NM_000551.4(VHL):c.340+808G>A rs1696164529
NM_000551.4(VHL):c.340+808_340+809dup rs2125126119
NM_000551.4(VHL):c.340+811G>A rs1174101376
NM_000551.4(VHL):c.340+811G>C rs1174101376
NM_000551.4(VHL):c.340+813A>G
NM_000551.4(VHL):c.340+813A>T rs2125126124
NM_000551.4(VHL):c.340+814G>A rs1696164726
NM_000551.4(VHL):c.340+814G>T rs1696164726
NM_000551.4(VHL):c.340+815T>G
NM_000551.4(VHL):c.340+815dup
NM_000551.4(VHL):c.340+818G>A rs960959316
NM_000551.4(VHL):c.340+818G>C
NM_000551.4(VHL):c.340+821C>T
NM_000551.4(VHL):c.340+822T>G rs2125126133
NM_000551.4(VHL):c.340+824G>A rs1349420435
NM_000551.4(VHL):c.340+825C>A rs1156980093
NM_000551.4(VHL):c.340+825C>G rs1156980093
NM_000551.4(VHL):c.340+825_340+834del rs2125126131
NM_000551.4(VHL):c.340+827A>G rs2125126136
NM_000551.4(VHL):c.340+828A>T rs570619659
NM_000551.4(VHL):c.340+830C>G rs1696165307
NM_000551.4(VHL):c.340+830C>T rs1696165307
NM_000551.4(VHL):c.340+831C>A rs1696165357
NM_000551.4(VHL):c.340+831C>G rs1696165357
NM_000551.4(VHL):c.340+831C>T rs1696165357
NM_000551.4(VHL):c.340+832T>C rs1696165411
NM_000551.4(VHL):c.340+832T>G rs1696165411
NM_000551.4(VHL):c.340+833A>G
NM_000551.4(VHL):c.340+834G>C
NM_000551.4(VHL):c.340+835G>A
NM_000551.4(VHL):c.340+837A>T rs190906863
NM_000551.4(VHL):c.341-12T>C
NM_000551.4(VHL):c.341-1_342dup rs1696260542
NM_000551.4(VHL):c.341-5G>T rs372340900
NM_000551.4(VHL):c.341-5_341-4delinsTT
NM_000551.4(VHL):c.341-5del rs2125128198
NM_000551.4(VHL):c.341-6C>A
NM_000551.4(VHL):c.341-6C>G rs191201783
NM_000551.4(VHL):c.341G>T (p.Gly114Val)
NM_000551.4(VHL):c.343C>A (p.His115Asn)
NM_000551.4(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.4(VHL):c.356T>G (p.Phe119Cys) rs2125128254
NM_000551.4(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.4(VHL):c.364G>T (p.Ala122Ser) rs1064793291
NM_000551.4(VHL):c.365C>A (p.Ala122Glu)
NM_000551.4(VHL):c.365C>G (p.Ala122Gly) rs1696261924
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.376G>C (p.Asp126His) rs104893831
NM_000551.4(VHL):c.377_379dup (p.Asp126dup) rs1696262591
NM_000551.4(VHL):c.379_380insCAG (p.Asp126_Gly127insAla) rs1559428103
NM_000551.4(VHL):c.382C>T (p.Leu128Phe) rs1553619956
NM_000551.4(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.4(VHL):c.398C>G (p.Thr133Ser)
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.409G>A (p.Val137Met)
NM_000551.4(VHL):c.415T>C (p.Ser139Pro) rs1696264596
NM_000551.4(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.4(VHL):c.418C>G (p.Leu140Val) rs768637170
NM_000551.4(VHL):c.418C>T (p.Leu140Phe) rs768637170
NM_000551.4(VHL):c.421A>C (p.Asn141His) rs1696265107
NM_000551.4(VHL):c.421A>G (p.Asn141Asp) rs1696265107
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.425T>C (p.Val142Ala) rs1553619979
NM_000551.4(VHL):c.425T>G (p.Val142Gly)
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.430G>C (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.431G>A (p.Gly144Glu) rs2125128440
NM_000551.4(VHL):c.433C>A (p.Gln145Lys) rs749704215
NM_000551.4(VHL):c.433C>G (p.Gln145Glu) rs749704215
NM_000551.4(VHL):c.434A>G (p.Gln145Arg)
NM_000551.4(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.4(VHL):c.435G>C (p.Gln145His) rs771727849
NM_000551.4(VHL):c.437C>G (p.Pro146Arg)
NM_000551.4(VHL):c.437C>T (p.Pro146Leu) rs1575928079
NM_000551.4(VHL):c.442T>G (p.Phe148Val)
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.451A>G (p.Ile151Val) rs876659313
NM_000551.4(VHL):c.455C>T (p.Thr152Ile)
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.462A>G (p.Pro154=) rs1060503562
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>C (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.464-9C>T rs1238907068
NM_000551.4(VHL):c.477_478insTCA (p.Lys159_Glu160insSer)
NM_000551.4(VHL):c.478G>A (p.Glu160Lys)
NM_000551.4(VHL):c.478G>C (p.Glu160Gln) rs1696354965
NM_000551.4(VHL):c.493G>A (p.Val165Ile)
NM_000551.4(VHL):c.493G>T (p.Val165Phe) rs1575932103
NM_000551.4(VHL):c.494T>G (p.Val165Gly) rs1575932110
NM_000551.4(VHL):c.496G>A (p.Val166Ile) rs104893825
NM_000551.4(VHL):c.503G>A (p.Ser168Asn)
NM_000551.4(VHL):c.505C>G (p.Leu169Val)
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.511A>G (p.Lys171Glu)
NM_000551.4(VHL):c.512A>G (p.Lys171Arg) rs1696358528
NM_000551.4(VHL):c.513G>C (p.Lys171Asn) rs1365445365
NM_000551.4(VHL):c.514C>T (p.Pro172Ser)
NM_000551.4(VHL):c.515C>G (p.Pro172Arg)
NM_000551.4(VHL):c.519G>C (p.Glu173Asp) rs1696359154
NM_000551.4(VHL):c.520A>T (p.Asn174Tyr) rs1060503566
NM_000551.4(VHL):c.521A>G (p.Asn174Ser) rs1575932235
NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) rs193922613
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.531A>T (p.Arg177Ser) rs766088261
NM_000551.4(VHL):c.532C>G (p.Leu178Val) rs755146587
NM_000551.4(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.4(VHL):c.535G>C (p.Asp179His) rs767780451
NM_000551.4(VHL):c.538A>C (p.Ile180Leu)
NM_000551.4(VHL):c.540C>G (p.Ile180Met) rs374927292
NM_000551.4(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.4(VHL):c.542T>C (p.Val181Ala) rs1553620340
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.545G>C (p.Arg182Thr) rs749774529
NM_000551.4(VHL):c.545G>T (p.Arg182Met) rs749774529
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.550C>G (p.Leu184Val) rs1696361913
NM_000551.4(VHL):c.553T>C (p.Tyr185His) rs768390987
NM_000551.4(VHL):c.554A>T (p.Tyr185Phe)
NM_000551.4(VHL):c.556G>C (p.Glu186Gln) rs367545984
NM_000551.4(VHL):c.558A>C (p.Glu186Asp) rs587778744
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.568_570dup (p.Asp190dup) rs1559429840
NM_000551.4(VHL):c.571C>T (p.His191Tyr)
NM_000551.4(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.4(VHL):c.572A>G (p.His191Arg) rs370050374
NM_000551.4(VHL):c.574C>A (p.Pro192Thr) rs28940300
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.579T>A (p.Asn193Lys) rs1060503558
NM_000551.4(VHL):c.584A>C (p.Gln195Pro)
NM_000551.4(VHL):c.584A>G (p.Gln195Arg)
NM_000551.4(VHL):c.585G>C (p.Gln195His) rs878854128
NM_000551.4(VHL):c.586A>G (p.Lys196Glu) rs281860296
NM_000551.4(VHL):c.592C>G (p.Leu198Val) rs1187217673
NM_000551.4(VHL):c.592_594del (p.Leu198del) rs2125130773
NM_000551.4(VHL):c.595G>A (p.Glu199Lys) rs1325187978
NM_000551.4(VHL):c.596A>G (p.Glu199Gly) rs760690217
NM_000551.4(VHL):c.596A>T (p.Glu199Val) rs760690217
NM_000551.4(VHL):c.606dup (p.Gln203fs) rs1696365502
NM_000551.4(VHL):c.607C>A (p.Gln203Lys) rs750711842
NM_000551.4(VHL):c.607C>T (p.Gln203Ter) rs750711842
NM_000551.4(VHL):c.607_623del (p.Gln203fs)
NM_000551.4(VHL):c.610G>C (p.Glu204Gln) rs758853661
NM_000551.4(VHL):c.610G>T (p.Glu204Ter) rs758853661
NM_000551.4(VHL):c.613C>A (p.Arg205Ser) rs199926195
NM_000551.4(VHL):c.613C>G (p.Arg205Gly) rs199926195
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.614G>C (p.Arg205Pro)
NM_000551.4(VHL):c.614G>T (p.Arg205Leu) rs777130107
NM_000551.4(VHL):c.614_615del (p.Arg205fs) rs730882030
NM_000551.4(VHL):c.616A>G (p.Ile206Val)
NM_000551.4(VHL):c.617_618delinsAG (p.Ile206Lys) rs1060503567
NM_000551.4(VHL):c.619G>A (p.Ala207Thr) rs1696366320
NM_000551.4(VHL):c.619_620delinsAA (p.Ala207Lys) rs2125130853
NM_000551.4(VHL):c.622C>G (p.His208Asp)
NM_000551.4(VHL):c.622C>T (p.His208Tyr) rs121913347
NM_000551.4(VHL):c.623A>G (p.His208Arg) rs1696366534
NM_000551.4(VHL):c.625C>G (p.Gln209Glu) rs1559429968
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.627A>T (p.Gln209His) rs758494789
NM_000551.4(VHL):c.630del (p.Met211fs) rs2125130871
NM_000551.4(VHL):c.632T>C (p.Met211Thr) rs1366708242
NM_000551.4(VHL):c.633G>A (p.Met211Ile)
NM_000551.4(VHL):c.634G>A (p.Gly212Arg) rs1553620389
NM_000551.4(VHL):c.638A>G (p.Asp213Gly) rs1553620394
NM_000551.4(VHL):c.639T>G (p.Asp213Glu)
NM_000551.4(VHL):c.639_642dup (p.Asp213_Ter214=) rs1696368069

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