ClinVar Miner

List of variants in gene VHL reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.-62_-43del
NM_000551.4(VHL):c.103G>A (p.Ala35Thr) rs1405360663
NM_000551.4(VHL):c.119C>G (p.Pro40Arg) rs200343185
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.325A>G (p.Ile109Val)

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