ClinVar Miner

List of variants in gene combination LOC107303340, VHL studied for Erythrocytosis, familial, 2

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Total variants: 11
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NM_000551.3(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.340+694_340+711dup rs1575923363
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.4(VHL):c.413C>T (p.Pro138Leu) rs780178275
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001354723.2(VHL):c.*125C>G rs28940301
NM_198156.3(VHL):c.341-3238G>T rs104893831

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