ClinVar Miner

List of variants in gene VHL reported as benign

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-195G>A rs779805 0.56161
NC_000003.12:g.10141318G>C rs10433558 0.22581
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_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.-26C>G rs775446934 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
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.237C>T (p.Arg79=) rs760899424 0.00002
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NC_000003.12:g.10141569_10141571dup rs36068404
NC_000003.12:g.10141570_10141571dup rs36068404
NC_000003.12:g.10141590C>T rs779804
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.70G>A (p.Gly24Ser) rs1438223626
NM_000551.4(VHL):c.96G>A (p.Glu32=)

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