ClinVar Miner

List of variants reported as likely benign for Von Hippel-Lindau syndrome by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298

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