ClinVar Miner

List of variants in gene VHL reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-77C>T rs3087462 0.02828
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000551.3(VHL):c.-97T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
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_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000551.4(VHL):c.-64C>T rs772944298 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.-23G>C rs760414295 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
NM_000551.4(VHL):c.340+10C>T rs777622214 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.-55del rs1361905543 0.00005
NM_000551.4(VHL):c.213C>T (p.Pro71=) rs201663073 0.00004
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.340+11G>A rs1309285376 0.00002
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000551.4(VHL):c.-25C>A rs1340337531 0.00001
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.109G>A (p.Glu37Lys) rs1338996432 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=) rs1271292937 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.3(VHL):c.-77_-32del rs1553619239
NM_000551.4(VHL):c.-28G>C
NM_000551.4(VHL):c.-31T>C
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.-54_-35dup rs730882036
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.151G>A (p.Glu51Lys) rs1480825246
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.204G>A (p.Ser68=)
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.216C>A (p.Ser72=) rs774557051
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.273del (p.Phe91fs) rs1559426047
NM_000551.4(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.56G>T (p.Gly19Val) rs2125124549
NM_000551.4(VHL):c.72C>A (p.Gly24=) rs1375079282
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115

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