ClinVar Miner

List of variants in gene VHL reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
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.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.7C>T (p.Arg3Trp) rs878854130 0.00002
NM_000551.4(VHL):c.111G>C (p.Glu37Asp) rs1398333169 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 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.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.247G>C (p.Val83Leu) rs751042065 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.305C>T (p.Pro102Leu) rs1379270197 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.4C>T (p.Pro2Ser) rs1034974221 0.00001
NM_000551.4(VHL):c.88G>A (p.Gly30Arg) rs913104799 0.00001
NM_000551.4(VHL):c.8G>C (p.Arg3Pro) rs1178481595 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs) rs2125124326
NM_000551.4(VHL):c.-54_-35dup rs730882036
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.119C>G (p.Pro40Arg) rs200343185
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.127T>C (p.Ser43Pro) rs1696123001
NM_000551.4(VHL):c.13_31dup (p.Ala11fs) rs1455562175
NM_000551.4(VHL):c.149C>T (p.Ala50Val) rs766576246
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.4(VHL):c.16_34dup (p.Glu12fs) rs1553619276
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.4(VHL):c.199A>C (p.Asn67His) rs1064794129
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.212C>T (p.Pro71Leu) rs2125125002
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
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.40G>A (p.Gly14Ser) rs1060503559
NM_000551.4(VHL):c.49G>T (p.Glu17Ter) rs1028898216
NM_000551.4(VHL):c.51G>T (p.Glu17Asp) rs2125124538
NM_000551.4(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.6C>T (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.91del (p.Glu31fs)
NM_000551.4(VHL):c.97del (p.Ser33fs) rs2125124691
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514

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