ClinVar Miner

List of variants studied for Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma

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ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000551.4(VHL):c.340+578C>T rs139622356 0.00064
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.420C>A (p.Leu140=) rs369465430 0.00004
NM_000551.4(VHL):c.556G>A (p.Glu186Lys) rs367545984 0.00004
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr) rs587780731 0.00003
NM_000551.4(VHL):c.463+4C>T rs879253989 0.00003
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.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) rs1236604706 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val) rs1057517560 0.00002
NM_000551.4(VHL):c.620C>T (p.Ala207Val) rs1060503549 0.00002
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.182C>T (p.Pro61Leu) rs746582207 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.21C>A (p.Asn7Lys) rs1060503561 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.284C>T (p.Pro95Leu) rs964996401 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.373C>T (p.His125Tyr) rs375401722 0.00001
NM_000551.4(VHL):c.408T>G (p.Phe136Leu) rs878854125 0.00001
NM_000551.4(VHL):c.40G>C (p.Gly14Arg) rs1060503559 0.00001
NM_000551.4(VHL):c.416C>G (p.Ser139Cys) rs587780732 0.00001
NM_000551.4(VHL):c.426T>C (p.Val142=) rs143594610 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_000551.4(VHL):c.544A>G (p.Arg182Gly) rs778205243 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) rs768390987 0.00001
NM_000551.4(VHL):c.634G>T (p.Gly212Ter) rs1553620389 0.00001
NM_000551.4(VHL):c.637G>C (p.Asp213His) rs1696367993 0.00001
NM_000551.4(VHL):c.93G>C (p.Glu31Asp) rs1438911242 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_000551.4(VHL):c.98C>A (p.Ser33Ter) rs1476994915 0.00001
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.130G>C (p.Gly44Arg) rs1575921446
NM_000551.4(VHL):c.151G>C (p.Glu51Gln) rs1480825246
NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.225C>G (p.Ile75Met) rs768104793
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.26A>T (p.Asp9Val)
NM_000551.4(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.4(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.4(VHL):c.310G>C (p.Gly104Arg)
NM_000551.4(VHL):c.314del (p.Thr105fs)
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.32C>G (p.Ala11Gly)
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.4(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.4(VHL):c.398C>T (p.Thr133Ile) rs1060503565
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.422A>G (p.Asn141Ser) rs1064796570
NM_000551.4(VHL):c.430G>A (p.Gly144Arg) rs869025650
NM_000551.4(VHL):c.463+9G>A rs1057522720
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.496_506del (p.Val166fs) rs869025663
NM_000551.4(VHL):c.506_509delinsCG (p.Leu169fs)
NM_000551.4(VHL):c.508G>A (p.Val170Ile) rs1553620326
NM_000551.4(VHL):c.512A>G (p.Lys171Arg) rs1696358528
NM_000551.4(VHL):c.530G>C (p.Arg177Thr) rs1470394966
NM_000551.4(VHL):c.532C>G (p.Leu178Val) rs755146587
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.546G>T (p.Arg182Ser)
NM_000551.4(VHL):c.554A>C (p.Tyr185Ser)
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.613C>T (p.Arg205Cys) rs199926195
NM_000551.4(VHL):c.626A>G (p.Gln209Arg) rs770746627
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp) rs1696118253
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235

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