ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 13
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HGVS dbSNP
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.3(VHL):c.408del (p.Phe136fs) rs397516442
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.463+2T>G rs5030814
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.464-1G>A rs5030817
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.3(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298

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