ClinVar Miner

List of variants reported as likely benign for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome by Invitae

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Total variants: 11
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HGVS dbSNP
NM_000551.3(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.3(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.3(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.3(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.3(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.3(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.3(VHL):c.6C>G (p.Pro2=) rs1014417508

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