ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.629G>A (p.Arg210Gln) rs138780791 0.00013
NM_000551.4(VHL):c.340+621T>C rs562162481 0.00005
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) rs561874453 0.00003
NM_000551.4(VHL):c.614G>A (p.Arg205His) rs777130107 0.00003
NM_000551.4(VHL):c.340+800G>A rs999509680 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.599G>A (p.Arg200Gln) rs754016774 0.00001
NM_000551.4(VHL):c.340+587C>G rs1488349413
NM_000551.4(VHL):c.340+646A>T rs765323685
NM_000551.4(VHL):c.340+695_340+702dup rs1381868678
NM_000551.4(VHL):c.340+696G>T rs1353527753
NM_000551.4(VHL):c.340+767G>A
NM_000551.4(VHL):c.439A>T (p.Ile147Phe)
NM_000551.4(VHL):c.461C>G (p.Pro154Arg) rs1399097617
NM_000551.4(VHL):c.545G>A (p.Arg182Lys) rs749774529
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906

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