ClinVar Miner

List of variants studied for Von Hippel-Lindau syndrome by Mendelics

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Total variants: 8
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HGVS dbSNP
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_198156.3(VHL):c.123_137del (p.38_42SGPEE[1]) rs863224839

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