ClinVar Miner

List of variants studied for Von Hippel-Lindau syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.*1860A>G rs458106 0.98202
NM_000551.4(VHL):c.*2975G>C rs801913 0.90200
NM_000551.4(VHL):c.*3644_*3645insG rs201632485 0.86506
NM_000551.4(VHL):c.*1023G>A rs1681669 0.60118
NM_000551.4(VHL):c.*294G>A rs1642742 0.57360
NM_000551.4(VHL):c.*1060C>T rs1681668 0.57297
NM_000551.3(VHL):c.-195G>A rs779805 0.56161
NM_000551.4(VHL):c.*2548G>A rs187719061 0.12455
NM_000551.4(VHL):c.*2140C>T rs140614750 0.12149
NM_000551.4(VHL):c.*1973_*1979del rs149248243 0.12080
NM_000551.4(VHL):c.*2600T>A rs142728549 0.06248
NM_000551.3(VHL):c.-77C>T rs3087462 0.02828
NM_000551.4(VHL):c.*823G>A rs7629500 0.02732
NM_000551.4(VHL):c.*3523T>G rs17610448 0.02083
NM_000551.4(VHL):c.*724T>G rs13090104 0.01627
NM_000551.4(VHL):c.*3352G>A rs112130915 0.01140
NM_000551.4(VHL):c.*1990G>A rs113678809 0.01135
NM_000551.4(VHL):c.*1787G>A rs115303528 0.00645
NM_000551.4(VHL):c.*2201G>A rs145666034 0.00645
NM_000551.4(VHL):c.*1222A>G rs72563744 0.00642
NM_000551.4(VHL):c.*3453A>G rs140044688 0.00642
NM_000551.4(VHL):c.*1759A>G rs114732761 0.00641
NM_000551.4(VHL):c.*713T>C rs13090098 0.00641
NM_000551.4(VHL):c.*718T>C rs116182840 0.00641
NM_000551.4(VHL):c.*1328C>A rs78562649 0.00560
NM_000551.4(VHL):c.*1419A>G rs141916278 0.00551
NM_000551.4(VHL):c.*1960G>A rs9822696 0.00515
NM_000551.4(VHL):c.*1465C>A rs183067022 0.00497
NM_000551.4(VHL):c.*2562C>T rs747406421 0.00359
NM_000551.4(VHL):c.*3603C>T rs145137834 0.00352
NM_000551.4(VHL):c.*3021T>C rs138933035 0.00296
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.*2594C>A rs191582744 0.00216
NM_000551.4(VHL):c.*3395C>T rs184144719 0.00205
NM_000551.4(VHL):c.*574T>C rs143062510 0.00195
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000551.4(VHL):c.*820A>G rs182781943 0.00168
NM_000551.4(VHL):c.*1619T>C rs145608408 0.00154
NM_000551.4(VHL):c.*1947A>T rs546263769 0.00143
NM_000551.4(VHL):c.*2541_*2546del rs886057738 0.00142
NM_000551.4(VHL):c.*2468C>T rs138237298 0.00109
NM_000551.4(VHL):c.*3205C>T rs561918442 0.00090
NM_000551.4(VHL):c.*3389G>A rs368247150 0.00079
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.*1829G>A rs757233828 0.00068
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.*2543_*2546del rs886057739 0.00063
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000551.4(VHL):c.*3617G>A rs527601820 0.00043
NM_000551.4(VHL):c.*2854G>T rs546347626 0.00042
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.*1721C>G rs574191130 0.00037
NM_000551.4(VHL):c.*3625T>A rs552161251 0.00036
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000551.4(VHL):c.*1172C>T rs528852958 0.00031
NM_000551.4(VHL):c.*3374G>A rs144782223 0.00028
NM_000551.4(VHL):c.*579G>C rs761456338 0.00025
NM_000551.4(VHL):c.*1371A>G rs771759826 0.00024
NM_000551.4(VHL):c.*1249G>A rs886057716 0.00022
NM_000551.4(VHL):c.*391C>T rs138178021 0.00022
NM_000551.3(VHL):c.-188G>A rs966586600 0.00020
NM_000551.4(VHL):c.*1680T>C rs561087293 0.00019
NM_000551.4(VHL):c.*2716G>A rs538719970 0.00018
NM_000551.4(VHL):c.*1513A>G rs538580892 0.00016
NM_000551.4(VHL):c.*392G>A rs886057708 0.00016
NM_000551.4(VHL):c.*2570C>T rs909427137 0.00015
NM_000551.4(VHL):c.*885T>G rs998479331 0.00015
NM_000551.4(VHL):c.*1207G>A rs139557214 0.00014
NM_000551.4(VHL):c.*1867A>G rs566885734 0.00014
NM_000551.4(VHL):c.*989C>T rs186084634 0.00014
NM_000551.4(VHL):c.-64C>T rs772944298 0.00014
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.*1691A>G rs539201437 0.00011
NM_000551.4(VHL):c.*385del rs886057707 0.00011
NM_000551.4(VHL):c.*70C>T rs552290225 0.00011
NM_000551.4(VHL):c.*1351G>A rs905412506 0.00009
NM_000551.4(VHL):c.*1281A>G rs886057717 0.00008
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.*432C>G rs1230198427 0.00006
NM_000551.4(VHL):c.*635G>A rs886057712 0.00006
NM_000551.4(VHL):c.464-10G>A rs552930903 0.00006
NM_000551.4(VHL):c.*2464A>G rs1039347276 0.00005
NM_000551.4(VHL):c.*1677C>T rs886057723 0.00004
NM_000551.4(VHL):c.*1878T>C rs1454245545 0.00004
NM_000551.4(VHL):c.*2782C>G rs886057747 0.00004
NM_000551.4(VHL):c.*3307C>T rs1236502754 0.00004
NM_000551.4(VHL):c.*876G>A rs1037001327 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000551.4(VHL):c.639T>C (p.Asp213=) rs775624944 0.00004
NM_000551.4(VHL):c.*2272C>T rs1035906615 0.00003
NM_000551.4(VHL):c.*2341T>C rs973162600 0.00003
NM_000551.4(VHL):c.*2571A>G rs886057741 0.00003
NM_000551.4(VHL):c.*1452A>T rs552760935 0.00002
NM_000551.4(VHL):c.*280A>G rs886057705 0.00002
NM_000551.4(VHL):c.*303A>T rs573000980 0.00002
NM_000551.4(VHL):c.*3128G>A rs886057751 0.00002
NM_000551.4(VHL):c.*3222A>G rs886057752 0.00002
NM_000551.4(VHL):c.*327G>A rs1247645604 0.00002
NM_000551.4(VHL):c.*3616C>T rs750516726 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.3(VHL):c.-179G>A rs1466966053 0.00001
NM_000551.4(VHL):c.*1072C>T rs886057715 0.00001
NM_000551.4(VHL):c.*1852T>C rs1356745170 0.00001
NM_000551.4(VHL):c.*2224A>G rs886057734 0.00001
NM_000551.4(VHL):c.*2715C>T rs578053681 0.00001
NM_000551.4(VHL):c.*2904A>G rs1339328787 0.00001
NM_000551.4(VHL):c.*2919T>A rs1335170233 0.00001
NM_000551.4(VHL):c.*452G>A rs866994372 0.00001
NM_000551.4(VHL):c.*522G>C rs1696383500 0.00001
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.10A>T (p.Arg4Trp) rs886057702 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_000551.3(VHL):c.-118C>T rs1696106670
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.4(VHL):c.*1001T>C rs1696395449
NM_000551.4(VHL):c.*1087G>A rs889996347
NM_000551.4(VHL):c.*1114C>A rs1696399406
NM_000551.4(VHL):c.*1181G>C rs72563745
NM_000551.4(VHL):c.*1301G>A rs541963428
NM_000551.4(VHL):c.*1330A>G rs886057718
NM_000551.4(VHL):c.*1347C>A rs886057719
NM_000551.4(VHL):c.*1481G>A rs886057720
NM_000551.4(VHL):c.*1542C>A rs1266903436
NM_000551.4(VHL):c.*1617G>T rs886057721
NM_000551.4(VHL):c.*1643C>A rs886057722
NM_000551.4(VHL):c.*1689A>G rs1696413219
NM_000551.4(VHL):c.*1741G>T rs886057724
NM_000551.4(VHL):c.*1780C>G rs886057725
NM_000551.4(VHL):c.*1782T>G rs886057726
NM_000551.4(VHL):c.*1808A>G rs886057727
NM_000551.4(VHL):c.*1887C>A rs886057728
NM_000551.4(VHL):c.*1913T>C rs1696419066
NM_000551.4(VHL):c.*1922G>A rs886057729
NM_000551.4(VHL):c.*2034T>A rs1136249
NM_000551.4(VHL):c.*2034T>G rs1136249
NM_000551.4(VHL):c.*2090del rs886057730
NM_000551.4(VHL):c.*2093del rs886057731
NM_000551.4(VHL):c.*2094del rs886057732
NM_000551.4(VHL):c.*20C>A rs1696369145
NM_000551.4(VHL):c.*2117del rs757106274
NM_000551.4(VHL):c.*2118del rs886057733
NM_000551.4(VHL):c.*2419dup rs564788050
NM_000551.4(VHL):c.*2432T>G rs886057736
NM_000551.4(VHL):c.*2540_*2545del rs71052299
NM_000551.4(VHL):c.*2545del rs71052299
NM_000551.4(VHL):c.*2546GA[1] rs886057740
NM_000551.4(VHL):c.*2647C>A rs886057742
NM_000551.4(VHL):c.*2660T>A rs886057743
NM_000551.4(VHL):c.*266_*269del rs886057704
NM_000551.4(VHL):c.*2670G>C rs886057744
NM_000551.4(VHL):c.*2681C>T rs1696442933
NM_000551.4(VHL):c.*2738G>A rs886057745
NM_000551.4(VHL):c.*275C>T rs1696376132
NM_000551.4(VHL):c.*2762T>C rs886057746
NM_000551.4(VHL):c.*2812A>C rs886057748
NM_000551.4(VHL):c.*2893G>A rs777358147
NM_000551.4(VHL):c.*2937G>A rs922231519
NM_000551.4(VHL):c.*2960C>A rs886057749
NM_000551.4(VHL):c.*2988G>A rs886057750
NM_000551.4(VHL):c.*3040G>A rs923804041
NM_000551.4(VHL):c.*3097G>A rs149416955
NM_000551.4(VHL):c.*3249C>T rs886057753
NM_000551.4(VHL):c.*3261T>C rs886057754
NM_000551.4(VHL):c.*3323ACAAAAA[3] rs886057755
NM_000551.4(VHL):c.*3411C>T rs1696466386
NM_000551.4(VHL):c.*3470G>T rs886057756
NM_000551.4(VHL):c.*3482dup rs148013887
NM_000551.4(VHL):c.*3492_*3493dup rs112494627
NM_000551.4(VHL):c.*349G>T rs886057706
NM_000551.4(VHL):c.*3506G>T rs886057759
NM_000551.4(VHL):c.*3545C>A rs886057760
NM_000551.4(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.4(VHL):c.*370A>G rs576059326
NM_000551.4(VHL):c.*448G>T rs886057709
NM_000551.4(VHL):c.*523del rs546118793
NM_000551.4(VHL):c.*572T>A rs1345623222
NM_000551.4(VHL):c.*597G>A rs886057711
NM_000551.4(VHL):c.*687C>A rs886057713
NM_000551.4(VHL):c.*816G>C rs142396182
NM_000551.4(VHL):c.*923GTTTT[5] rs544983652
NM_000551.4(VHL):c.-26C>T rs775446934
NM_000551.4(VHL):c.-30C>T rs886057701
NM_000551.4(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.4(VHL):c.341-5G>A rs372340900
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032

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