ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP
NM_000551.3(VHL):c.*1072C>T rs886057715
NM_000551.3(VHL):c.*1172C>T rs528852958
NM_000551.3(VHL):c.*1207G>A rs139557214
NM_000551.3(VHL):c.*1249G>A rs886057716
NM_000551.3(VHL):c.*1281A>G rs886057717
NM_000551.3(VHL):c.*1330A>G rs886057718
NM_000551.3(VHL):c.*1347C>A rs886057719
NM_000551.3(VHL):c.*1371A>G rs771759826
NM_000551.3(VHL):c.*1419A>G rs141916278
NM_000551.3(VHL):c.*1481G>A rs886057720
NM_000551.3(VHL):c.*1513A>G rs538580892
NM_000551.3(VHL):c.*1617G>T rs886057721
NM_000551.3(VHL):c.*1643C>A rs886057722
NM_000551.3(VHL):c.*1677C>T rs886057723
NM_000551.3(VHL):c.*1691A>G rs539201437
NM_000551.3(VHL):c.*1741G>T rs886057724
NM_000551.3(VHL):c.*1780C>G rs886057725
NM_000551.3(VHL):c.*1782T>G rs886057726
NM_000551.3(VHL):c.*1808A>G rs886057727
NM_000551.3(VHL):c.*1887C>A rs886057728
NM_000551.3(VHL):c.*1922G>A rs886057729
NM_000551.3(VHL):c.*2034T>A rs1136249
NM_000551.3(VHL):c.*2090del rs886057730
NM_000551.3(VHL):c.*2093del rs886057731
NM_000551.3(VHL):c.*2094del rs886057732
NM_000551.3(VHL):c.*2117del rs757106274
NM_000551.3(VHL):c.*2118del rs886057733
NM_000551.3(VHL):c.*2224A>G rs886057734
NM_000551.3(VHL):c.*2419dup rs564788050
NM_000551.3(VHL):c.*2432T>G rs886057736
NM_000551.3(VHL):c.*2540_*2545del rs71052299
NM_000551.3(VHL):c.*2541_*2546del rs886057738
NM_000551.3(VHL):c.*2543_*2546del rs886057739
NM_000551.3(VHL):c.*2545del rs71052299
NM_000551.3(VHL):c.*2562C>T rs747406421
NM_000551.3(VHL):c.*2571A>G rs886057741
NM_000551.3(VHL):c.*2647C>A rs886057742
NM_000551.3(VHL):c.*2660T>A rs886057743
NM_000551.3(VHL):c.*266_*269del rs886057704
NM_000551.3(VHL):c.*2670G>C rs886057744
NM_000551.3(VHL):c.*2738G>A rs886057745
NM_000551.3(VHL):c.*2762T>C rs886057746
NM_000551.3(VHL):c.*2782C>G rs886057747
NM_000551.3(VHL):c.*280A>G rs886057705
NM_000551.3(VHL):c.*2812A>C rs886057748
NM_000551.3(VHL):c.*2854G>T rs546347626
NM_000551.3(VHL):c.*2960C>A rs886057749
NM_000551.3(VHL):c.*2988G>A rs886057750
NM_000551.3(VHL):c.*3128G>A rs886057751
NM_000551.3(VHL):c.*3205C>T rs561918442
NM_000551.3(VHL):c.*3222A>G rs886057752
NM_000551.3(VHL):c.*3249C>T rs886057753
NM_000551.3(VHL):c.*3261T>C rs886057754
NM_000551.3(VHL):c.*3389G>A rs368247150
NM_000551.3(VHL):c.*3470G>T rs886057756
NM_000551.3(VHL):c.*349G>T rs886057706
NM_000551.3(VHL):c.*3506G>T rs886057759
NM_000551.3(VHL):c.*3545C>A rs886057760
NM_000551.3(VHL):c.*3616C>T rs750516726
NM_000551.3(VHL):c.*3625T>A rs552161251
NM_000551.3(VHL):c.*3645_*3646insGT rs1553620861
NM_000551.3(VHL):c.*385del rs886057707
NM_000551.3(VHL):c.*392G>A rs886057708
NM_000551.3(VHL):c.*448G>T rs886057709
NM_000551.3(VHL):c.*597G>A rs886057711
NM_000551.3(VHL):c.*635G>A rs886057712
NM_000551.3(VHL):c.*687C>A rs886057713
NM_000551.3(VHL):c.*7C>G rs778005138
NM_000551.3(VHL):c.*816G>C rs142396182
NM_000551.3(VHL):c.*989C>T rs186084634
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.3(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.3(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.3(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.3(VHL):c.464-117del rs193922612
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.3(VHL):c.497T>G (p.Val166Gly) rs397516445
NM_000551.3(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.541G>A (p.Val181Ile) rs878854127
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944
NM_000551.4(VHL):c.*1001T>C
NM_000551.4(VHL):c.*1087G>A
NM_000551.4(VHL):c.*1114C>A
NM_000551.4(VHL):c.*1351G>A
NM_000551.4(VHL):c.*1689A>G
NM_000551.4(VHL):c.*1829G>A
NM_000551.4(VHL):c.*1852T>C
NM_000551.4(VHL):c.*1878T>C
NM_000551.4(VHL):c.*1913T>C
NM_000551.4(VHL):c.*20C>A
NM_000551.4(VHL):c.*2272C>T
NM_000551.4(VHL):c.*2341T>C
NM_000551.4(VHL):c.*2464A>G
NM_000551.4(VHL):c.*2570C>T
NM_000551.4(VHL):c.*2681C>T
NM_000551.4(VHL):c.*275C>T
NM_000551.4(VHL):c.*2893G>A
NM_000551.4(VHL):c.*2904A>G
NM_000551.4(VHL):c.*2919T>A
NM_000551.4(VHL):c.*2937G>A
NM_000551.4(VHL):c.*3040G>A
NM_000551.4(VHL):c.*327G>A
NM_000551.4(VHL):c.*3307C>T
NM_000551.4(VHL):c.*3374G>A
NM_000551.4(VHL):c.*3411C>T
NM_000551.4(VHL):c.*370A>G
NM_000551.4(VHL):c.*432C>G
NM_000551.4(VHL):c.*452G>A
NM_000551.4(VHL):c.*522G>C
NM_000551.4(VHL):c.*572T>A
NM_000551.4(VHL):c.*579G>C
NM_000551.4(VHL):c.*876G>A
NM_000551.4(VHL):c.*885T>G
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_001354723.2(VHL):c.*100del rs869025665
NM_001354723.2(VHL):c.*94_*97del rs869025664
NM_198156.3(VHL):c.*2546_*2547GA[1] rs886057740
NM_198156.3(VHL):c.*3323_*3329ACAAAAA[3] rs886057755

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