ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely benign for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome

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Total variants: 20
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NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.385C>T (p.Leu129=) rs369018004
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.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-10G>A rs552930903
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.507A>C (p.Leu169=) rs878854126
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.579T>C (p.Asn193=) rs1060503558
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944

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