ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NM_000551.3(VHL):c.*7C>A rs778005138
NM_000551.3(VHL):c.341-10G>C rs140064807
NM_000551.3(VHL):c.341-182C>T
NM_000551.3(VHL):c.341-216C>T
NM_000551.3(VHL):c.341-5G>A rs372340900
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.347T>G (p.Leu116Arg) rs879254230
NM_000551.3(VHL):c.356_357insGG (p.Phe119fs) rs1131691526
NM_000551.3(VHL):c.364G>T (p.Ala122Ser) rs1064793291
NM_000551.3(VHL):c.366A>G (p.Ala122=) rs1474241640
NM_000551.3(VHL):c.373C>T (p.His125Tyr) rs375401722
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.387G>T (p.Leu129=) rs778846471
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.416C>G (p.Ser139Cys) rs587780732
NM_000551.3(VHL):c.420C>A (p.Leu140=) rs369465430
NM_000551.3(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.3(VHL):c.426T>C (p.Val142=)
NM_000551.3(VHL):c.429C>T (p.Asp143=) rs773556807
NM_000551.3(VHL):c.439A>G (p.Ile147Val) rs1057517560
NM_000551.3(VHL):c.440T>C (p.Ile147Thr) rs1060503555
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.463+12T>C rs1382435156
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.463+9G>A rs1057522720
NM_000551.3(VHL):c.464-153C>G
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.482_486del (p.Arg161fs) rs1064794037
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.522T>C (p.Asn174=) rs1057523911
NM_000551.3(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.3(VHL):c.535G>A (p.Asp179Asn) rs767780451
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.540C>T (p.Ile180=) rs374927292
NM_000551.3(VHL):c.544A>G (p.Arg182Gly) rs778205243
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.555C>T (p.Tyr185=) rs864622109
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.556G>T (p.Glu186Ter) rs367545984
NM_000551.3(VHL):c.561T>C (p.Asp187=) rs370769257
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000551.3(VHL):c.572A>C (p.His191Pro) rs370050374
NM_000551.3(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.3(VHL):c.578A>G (p.Asn193Ser) rs879254225
NM_000551.3(VHL):c.589G>C (p.Asp197His) rs1064794951
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.599G>A (p.Arg200Gln) rs754016774
NM_000551.3(VHL):c.601C>T (p.Leu201=) rs786201557
NM_000551.3(VHL):c.612G>A (p.Glu204=) rs747805018
NM_000551.3(VHL):c.612_613GC[1] (p.Arg205fs) rs730882030
NM_000551.3(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.3(VHL):c.614G>A (p.Arg205His) rs777130107
NM_000551.3(VHL):c.618T>C (p.Ile206=)
NM_000551.3(VHL):c.627A>G (p.Gln209=) rs758494789
NM_000551.3(VHL):c.629G>A (p.Arg210Gln) rs138780791
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.639T>C (p.Asp213=) rs775624944

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