ClinVar Miner

List of variants in gene VHL reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.227T>G (p.Phe76Cys) rs730882033
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.238A>C (p.Ser80Arg) rs786202787
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.268A>T (p.Asn90Tyr) rs1559426031
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
NM_000551.4(VHL):c.313A>C (p.Thr105Pro) rs1553619461
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
p.X214Trp

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