ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance by Ambry Genetics

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Total variants: 17
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HGVS dbSNP
NM_000551.3(VHL):c.364G>A (p.Ala122Thr) rs1064793291
NM_000551.3(VHL):c.385C>G (p.Leu129Val) rs369018004
NM_000551.3(VHL):c.408T>G (p.Phe136Leu) rs878854125
NM_000551.3(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.3(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.3(VHL):c.427G>C (p.Asp143His) rs372757722
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.451A>C (p.Ile151Leu) rs876659313
NM_000551.3(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.3(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.608A>G (p.Gln203Arg) rs1270568049
NM_000551.3(VHL):c.628C>T (p.Arg210Trp) rs774380450
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.634G>T (p.Gly212Ter) rs1553620389

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