ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NC_000003.12:g.10141660G>A
NC_000003.12:g.10141669G>A
NC_000003.12:g.10141730C>T
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.3(VHL):c.-207C>T rs886057698
NM_000551.3(VHL):c.-30C>T rs886057701
NM_000551.3(VHL):c.-35G>A rs587780992
NM_000551.3(VHL):c.-64C>T rs772944298
NM_000551.3(VHL):c.-73C>T rs1034934219
NM_000551.3(VHL):c.-77_-32del rs1553619239
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.105C>G (p.Ala35=) rs1310829877
NM_000551.3(VHL):c.10A>T (p.Arg4Trp) rs886057702
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.3(VHL):c.14C>T (p.Ala5Val) rs755333116
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.167C>G (p.Ala56Gly) rs752980085
NM_000551.3(VHL):c.172C>T (p.Arg58Trp) rs757781272
NM_000551.3(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.3(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.3(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.3(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.3(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.3(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.3(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.3(VHL):c.227T>C (p.Phe76Ser) rs730882033
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.275A>T (p.Asp92Val) rs749091984
NM_000551.3(VHL):c.278G>T (p.Gly93Val) rs1553619440
NM_000551.3(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.3(VHL):c.289C>T (p.Pro97Ser) rs863224688
NM_000551.3(VHL):c.28G>A (p.Glu10Lys) rs1057519261
NM_000551.3(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.3(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.332G>T (p.Ser111Ile) rs869025631
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.5C>T (p.Pro2Leu) rs111246617
NM_000551.3(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.3(VHL):c.71G>A (p.Gly24Asp) rs878854129
NM_000551.3(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.3(VHL):c.99G>C (p.Ser33=) rs912159589
NM_000551.4(VHL):c.-26C>T
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_198156.3(VHL):c.123_137del (p.38_42SGPEE[1]) rs863224839
NM_198156.3(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592

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