ClinVar Miner

List of variants in gene VHL reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000551.4(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.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.-47C>T rs745439844 0.00006
NM_000551.4(VHL):c.340+20G>A rs757151154 0.00003
NM_000551.4(VHL):c.315G>C (p.Thr105=) rs769102979 0.00002
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.128C>A (p.Ser43Tyr) rs202164771
NM_000551.4(VHL):c.132C>G (p.Gly44=) rs1696123413
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.34G>T (p.Glu12Ter)
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.46G>A (p.Glu16Lys)
NM_000551.4(VHL):c.65A>G (p.Glu22Gly) rs2125124570
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319

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