ClinVar Miner

List of variants in gene combination HRAS, LRRC56 reported as uncertain significance for Costello syndrome

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Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln) rs142218590 0.00007
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_005343.4(HRAS):c.368G>C (p.Arg123Pro) rs730880464 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005343.4(HRAS):c.280C>T (p.His94Tyr) rs144718261 0.00003
NM_005343.4(HRAS):c.376G>C (p.Glu126Gln) rs763754805 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005343.4(HRAS):c.111+6C>T rs377130570 0.00002
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578 0.00002
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys) rs764622691 0.00001
NM_005343.4(HRAS):c.221C>T (p.Thr74Ile) rs1291306227 0.00001
NM_005343.4(HRAS):c.223G>A (p.Gly75Arg) rs756190012 0.00001
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949 0.00001
NM_005343.4(HRAS):c.297G>T (p.Gln99His) rs199656012 0.00001
NM_005343.4(HRAS):c.302A>G (p.Lys101Arg) rs1131691997 0.00001
NM_005343.4(HRAS):c.304C>T (p.Arg102Trp) rs1057517913 0.00001
NM_005343.4(HRAS):c.307G>A (p.Val103Met) rs1213269684 0.00001
NM_005343.4(HRAS):c.317C>T (p.Ser106Leu) rs730880462 0.00001
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.329C>T (p.Pro110Leu) rs1204223913 0.00001
NM_005343.4(HRAS):c.365C>T (p.Ala122Val) rs779711606 0.00001
NM_005343.4(HRAS):c.382C>T (p.Arg128Trp) rs1350889077 0.00001
NM_005343.4(HRAS):c.383G>C (p.Arg128Pro) rs1554884794 0.00001
NM_005343.4(HRAS):c.391C>T (p.Gln131Ter) rs376688893 0.00001
NM_005343.4(HRAS):c.394G>A (p.Asp132Asn) rs759893630 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_005343.4(HRAS):c.400G>A (p.Ala134Thr) rs1389157073 0.00001
NM_005343.4(HRAS):c.407G>A (p.Ser136Asn) rs748289593 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005343.4(HRAS):c.422A>G (p.Tyr141Cys) rs372048612 0.00001
NM_005343.4(HRAS):c.451-3C>T rs1158205210 0.00001
NM_005343.4(HRAS):c.454G>A (p.Val152Met) rs1851183840 0.00001
NM_005343.4(HRAS):c.461A>T (p.Asp154Val) rs1434040739 0.00001
NM_005343.4(HRAS):c.463G>A (p.Ala155Thr) rs1171537215 0.00001
NM_005343.4(HRAS):c.482G>A (p.Arg161His) rs748729430 0.00001
NM_005343.4(HRAS):c.490C>T (p.Arg164Trp) rs779101895 0.00001
NM_005343.4(HRAS):c.491G>A (p.Arg164Gln) rs753977266 0.00001
NM_005343.4(HRAS):c.496C>T (p.His166Tyr) rs1439562437 0.00001
NM_005343.4(HRAS):c.536C>T (p.Pro179Leu) rs760429548 0.00001
NM_005343.4(HRAS):c.538G>A (p.Gly180Ser) rs772602067 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_005343.4(HRAS):c.566C>T (p.Ser189Phe) rs1851173218 0.00001
NC_000011.9:g.(?_532626)_(534332_?)dup
NC_000011.9:g.(?_532631)_(532755_?)dup
NC_000011.9:g.(?_532636)_(554276_?)dup
NM_005343.4(HRAS):c.-54+3G>A
NM_005343.4(HRAS):c.101C>T (p.Pro34Leu) rs2133994210
NM_005343.4(HRAS):c.103A>G (p.Thr35Ala) rs2133994194
NM_005343.4(HRAS):c.106A>G (p.Ile36Val) rs1060502663
NM_005343.4(HRAS):c.107T>C (p.Ile36Thr) rs775056058
NM_005343.4(HRAS):c.108dup (p.Glu37fs) rs2133994149
NM_005343.4(HRAS):c.110_111+5del rs1564790048
NM_005343.4(HRAS):c.112-10C>A rs727503092
NM_005343.4(HRAS):c.112-11T>A
NM_005343.4(HRAS):c.112-59_*6-51del
NM_005343.4(HRAS):c.115T>A (p.Ser39Thr) rs2133991854
NM_005343.4(HRAS):c.11A>C (p.Tyr4Ser) rs764622691
NM_005343.4(HRAS):c.122G>A (p.Arg41Gln)
NM_005343.4(HRAS):c.122G>C (p.Arg41Pro)
NM_005343.4(HRAS):c.127C>T (p.Gln43Ter) rs2133991697
NM_005343.4(HRAS):c.129G>C (p.Gln43His)
NM_005343.4(HRAS):c.131T>C (p.Val44Ala)
NM_005343.4(HRAS):c.133G>A (p.Val45Ile) rs1564789708
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) rs1028352031
NM_005343.4(HRAS):c.136A>G (p.Ile46Val) rs2133991578
NM_005343.4(HRAS):c.137T>C (p.Ile46Thr) rs1564789700
NM_005343.4(HRAS):c.138T>G (p.Ile46Met) rs1851286467
NM_005343.4(HRAS):c.145G>A (p.Glu49Lys) rs1277340795
NM_005343.4(HRAS):c.145G>C (p.Glu49Gln) rs1277340795
NM_005343.4(HRAS):c.146A>G (p.Glu49Gly)
NM_005343.4(HRAS):c.151T>C (p.Cys51Arg)
NM_005343.4(HRAS):c.158T>A (p.Leu53Ter)
NM_005343.4(HRAS):c.158T>G (p.Leu53Trp)
NM_005343.4(HRAS):c.16_24del (p.Leu6_Val8del)
NM_005343.4(HRAS):c.174_192del (p.Gly60fs) rs878854757
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175G>T (p.Ala59Ser) rs727503093
NM_005343.4(HRAS):c.177_433dup (p.Glu98Ter)
NM_005343.4(HRAS):c.178G>C (p.Gly60Arg)
NM_005343.4(HRAS):c.17TGG[3] (p.Val9del) rs1164486792
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) rs1589792614
NM_005343.4(HRAS):c.189G>C (p.Glu63Asp)
NM_005343.4(HRAS):c.191dup (p.Tyr64Ter)
NM_005343.4(HRAS):c.194G>A (p.Ser65Asn)
NM_005343.4(HRAS):c.197C>T (p.Ala66Val)
NM_005343.4(HRAS):c.19G>T (p.Val7Leu)
NM_005343.4(HRAS):c.201G>A (p.Met67Ile)
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) rs1370690781
NM_005343.4(HRAS):c.202C>T (p.Arg68Trp) rs1370690781
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.203G>T (p.Arg68Leu) rs730880461
NM_005343.4(HRAS):c.211T>C (p.Tyr71His) rs2133990650
NM_005343.4(HRAS):c.215T>C (p.Met72Thr)
NM_005343.4(HRAS):c.217C>T (p.Arg73Cys)
NM_005343.4(HRAS):c.218G>A (p.Arg73His)
NM_005343.4(HRAS):c.220A>G (p.Thr74Ala)
NM_005343.4(HRAS):c.221C>G (p.Thr74Ser)
NM_005343.4(HRAS):c.230G>A (p.Gly77Asp)
NM_005343.4(HRAS):c.236T>A (p.Leu79Gln) rs1851275137
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.245T>C (p.Phe82Ser) rs1851274209
NM_005343.4(HRAS):c.245T>G (p.Phe82Cys) rs1851274209
NM_005343.4(HRAS):c.247G>A (p.Ala83Thr)
NM_005343.4(HRAS):c.250A>G (p.Ile84Val)
NM_005343.4(HRAS):c.253A>G (p.Asn85Asp)
NM_005343.4(HRAS):c.25dup (p.Val9fs)
NM_005343.4(HRAS):c.260C>A (p.Thr87Asn) rs1851272986
NM_005343.4(HRAS):c.260C>T (p.Thr87Ile) rs1851272986
NM_005343.4(HRAS):c.262A>G (p.Lys88Glu)
NM_005343.4(HRAS):c.263A>G (p.Lys88Arg) rs1851272638
NM_005343.4(HRAS):c.269T>C (p.Phe90Ser) rs1589792507
NM_005343.4(HRAS):c.270dup (p.Glu91Ter) rs1851272209
NM_005343.4(HRAS):c.274G>A (p.Asp92Asn) rs1851271948
NM_005343.4(HRAS):c.275A>C (p.Asp92Ala) rs1589792495
NM_005343.4(HRAS):c.282C>G (p.His94Gln) rs375893752
NM_005343.4(HRAS):c.285G>C (p.Gln95His) rs925794740
NM_005343.4(HRAS):c.290+3G>A
NM_005343.4(HRAS):c.290+3G>T
NM_005343.4(HRAS):c.290+6C>A rs878854758
NM_005343.4(HRAS):c.290+9C>G rs747854581
NM_005343.4(HRAS):c.291-3C>T rs1851251687
NM_005343.4(HRAS):c.292G>A (p.Glu98Lys) rs751137946
NM_005343.4(HRAS):c.294G>A (p.Glu98=)
NM_005343.4(HRAS):c.295C>G (p.Gln99Glu) rs1851251123
NM_005343.4(HRAS):c.295C>T (p.Gln99Ter)
NM_005343.4(HRAS):c.305G>A (p.Arg102Gln)
NM_005343.4(HRAS):c.307G>C (p.Val103Leu) rs1213269684
NM_005343.4(HRAS):c.313G>A (p.Asp105Asn) rs1274939921
NM_005343.4(HRAS):c.313G>C (p.Asp105His)
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.319G>A (p.Asp107Asn)
NM_005343.4(HRAS):c.323A>G (p.Asp108Gly)
NM_005343.4(HRAS):c.325G>A (p.Val109Met) rs1342261234
NM_005343.4(HRAS):c.325G>T (p.Val109Leu)
NM_005343.4(HRAS):c.331A>G (p.Met111Val) rs771447288
NM_005343.4(HRAS):c.331A>T (p.Met111Leu)
NM_005343.4(HRAS):c.332T>C (p.Met111Thr) rs1564789063
NM_005343.4(HRAS):c.343G>A (p.Gly115Arg)
NM_005343.4(HRAS):c.347A>G (p.Asn116Ser)
NM_005343.4(HRAS):c.358C>G (p.Leu120Val) rs397517139
NM_005343.4(HRAS):c.361G>A (p.Ala121Thr) rs1851245429
NM_005343.4(HRAS):c.362C>A (p.Ala121Asp) rs376667492
NM_005343.4(HRAS):c.362C>T (p.Ala121Val) rs376667492
NM_005343.4(HRAS):c.364G>A (p.Ala122Thr) rs1851244921
NM_005343.4(HRAS):c.367C>G (p.Arg123Gly) rs369106578
NM_005343.4(HRAS):c.368G>A (p.Arg123His) rs730880464
NM_005343.4(HRAS):c.370A>G (p.Thr124Ala) rs1851243906
NM_005343.4(HRAS):c.373del (p.Val125fs)
NM_005343.4(HRAS):c.374T>C (p.Val125Ala)
NM_005343.4(HRAS):c.374T>G (p.Val125Gly)
NM_005343.4(HRAS):c.376G>T (p.Glu126Ter)
NM_005343.4(HRAS):c.379T>C (p.Ser127Pro) rs1221709596
NM_005343.4(HRAS):c.383G>A (p.Arg128Gln) rs1554884794
NM_005343.4(HRAS):c.383G>T (p.Arg128Leu) rs1554884794
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) rs1851242529
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.391C>G (p.Gln131Glu) rs376688893
NM_005343.4(HRAS):c.395A>G (p.Asp132Gly)
NM_005343.4(HRAS):c.401C>T (p.Ala134Val) rs397517141
NM_005343.4(HRAS):c.401_402insAAGACCTCGC (p.Ser136fs)
NM_005343.4(HRAS):c.403C>T (p.Arg135Ter)
NM_005343.4(HRAS):c.404G>A (p.Arg135Gln) rs1473091760
NM_005343.4(HRAS):c.406A>G (p.Ser136Gly)
NM_005343.4(HRAS):c.407G>C (p.Ser136Thr)
NM_005343.4(HRAS):c.412G>C (p.Gly138Arg)
NM_005343.4(HRAS):c.412_431del (p.Gly138fs) rs1851237302
NM_005343.4(HRAS):c.413G>A (p.Gly138Asp) rs1554884772
NM_005343.4(HRAS):c.413G>T (p.Gly138Val) rs1554884772
NM_005343.4(HRAS):c.414C>T (p.Gly138=) rs2133986610
NM_005343.4(HRAS):c.415A>T (p.Ile139Phe) rs2133986598
NM_005343.4(HRAS):c.419C>T (p.Pro140Leu) rs745637518
NM_005343.4(HRAS):c.41T>G (p.Val14Gly) rs1589793707
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.424A>G (p.Ile142Val) rs1564788848
NM_005343.4(HRAS):c.424A>T (p.Ile142Phe)
NM_005343.4(HRAS):c.424_426del (p.Ile142del)
NM_005343.4(HRAS):c.425T>C (p.Ile142Thr) rs2133986466
NM_005343.4(HRAS):c.426C>A (p.Ile142=) rs533567288
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) rs533567288
NM_005343.4(HRAS):c.427G>A (p.Glu143Lys) rs909222512
NM_005343.4(HRAS):c.427G>C (p.Glu143Gln) rs909222512
NM_005343.4(HRAS):c.429G>C (p.Glu143Asp) rs1226399807
NM_005343.4(HRAS):c.440_450+16del
NM_005343.4(HRAS):c.443C>G (p.Thr148Ser)
NM_005343.4(HRAS):c.445C>A (p.Arg149=)
NM_005343.4(HRAS):c.445C>T (p.Arg149Trp) rs1554884750
NM_005343.4(HRAS):c.445del (p.Arg149fs) rs2133986181
NM_005343.4(HRAS):c.446G>A (p.Arg149Gln)
NM_005343.4(HRAS):c.44G>C (p.Gly15Ala) rs1554885139
NM_005343.4(HRAS):c.44G>T (p.Gly15Val)
NM_005343.4(HRAS):c.450+4A>C
NM_005343.4(HRAS):c.451-6T>G rs1480423930
NM_005343.4(HRAS):c.451G>A (p.Gly151Arg)
NM_005343.4(HRAS):c.451G>C (p.Gly151Arg)
NM_005343.4(HRAS):c.452G>C (p.Gly151Ala) rs1362209698
NM_005343.4(HRAS):c.457G>T (p.Glu153Ter)
NM_005343.4(HRAS):c.463G>T (p.Ala155Ser) rs1171537215
NM_005343.4(HRAS):c.464C>T (p.Ala155Val) rs1269551105
NM_005343.4(HRAS):c.469T>C (p.Tyr157His) rs1851182643
NM_005343.4(HRAS):c.473C>A (p.Thr158Lys)
NM_005343.4(HRAS):c.473C>G (p.Thr158Arg)
NM_005343.4(HRAS):c.473C>T (p.Thr158Met) rs587778400
NM_005343.4(HRAS):c.473_475delinsG (p.Thr158fs)
NM_005343.4(HRAS):c.476T>C (p.Leu159Ser) rs2133982455
NM_005343.4(HRAS):c.477G>T (p.Leu159Phe)
NM_005343.4(HRAS):c.479T>C (p.Val160Ala) rs1851181776
NM_005343.4(HRAS):c.479T>G (p.Val160Gly)
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys) rs758956556
NM_005343.4(HRAS):c.482_511del (p.Arg161_Lys170del) rs2133982236
NM_005343.4(HRAS):c.484G>A (p.Glu162Lys) rs1564787942
NM_005343.4(HRAS):c.484G>C (p.Glu162Gln)
NM_005343.4(HRAS):c.486G>C (p.Glu162Asp)
NM_005343.4(HRAS):c.487A>T (p.Ile163Phe) rs1564787934
NM_005343.4(HRAS):c.489C>G (p.Ile163Met)
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro) rs753977266
NM_005343.4(HRAS):c.493C>A (p.Gln165Lys)
NM_005343.4(HRAS):c.497A>G (p.His166Arg) rs1851180327
NM_005343.4(HRAS):c.4A>G (p.Thr2Ala) rs878854761
NM_005343.4(HRAS):c.503T>C (p.Leu168Pro) rs756367459
NM_005343.4(HRAS):c.506G>T (p.Arg169Leu) rs142218590
NM_005343.4(HRAS):c.511C>G (p.Leu171Val)
NM_005343.4(HRAS):c.515A>G (p.Asn172Ser) rs913523409
NM_005343.4(HRAS):c.516C>A (p.Asn172Lys)
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) rs1851178613
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu) rs1171786943
NM_005343.4(HRAS):c.520C>G (p.Pro174Ala)
NM_005343.4(HRAS):c.529_530del (p.Ser177fs)
NM_005343.4(HRAS):c.529_531del (p.Ser177del)
NM_005343.4(HRAS):c.530G>A (p.Ser177Asn) rs1191074796
NM_005343.4(HRAS):c.530G>C (p.Ser177Thr)
NM_005343.4(HRAS):c.532G>A (p.Gly178Ser)
NM_005343.4(HRAS):c.532G>C (p.Gly178Arg) rs1445835026
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) rs1201430199
NM_005343.4(HRAS):c.538G>C (p.Gly180Arg)
NM_005343.4(HRAS):c.539G>A (p.Gly180Asp) rs1851175904
NM_005343.4(HRAS):c.542G>A (p.Cys181Tyr) rs1187682907
NM_005343.4(HRAS):c.543C>T (p.Cys181=) rs2133982060
NM_005343.4(HRAS):c.544A>C (p.Met182Leu) rs730880465
NM_005343.4(HRAS):c.544A>G (p.Met182Val) rs730880465
NM_005343.4(HRAS):c.545T>C (p.Met182Thr) rs1851174858
NM_005343.4(HRAS):c.548G>A (p.Ser183Asn)
NM_005343.4(HRAS):c.551G>A (p.Cys184Tyr) rs2133982018
NM_005343.4(HRAS):c.551G>C (p.Cys184Ser) rs2133982018
NM_005343.4(HRAS):c.552dup (p.Lys185fs) rs1554884418
NM_005343.4(HRAS):c.559G>A (p.Val187Met)
NM_005343.4(HRAS):c.55C>A (p.Leu19Met)
NM_005343.4(HRAS):c.560T>C (p.Val187Ala) rs1851173673
NM_005343.4(HRAS):c.565T>G (p.Ser189Ala) rs1851173462
NM_005343.4(HRAS):c.566_568del (p.Ser189del)
NM_005343.4(HRAS):c.59C>T (p.Thr20Ile)
NM_005343.4(HRAS):c.5C>G (p.Thr2Arg) rs1447218022
NM_005343.4(HRAS):c.5C>T (p.Thr2Met) rs1447218022
NM_005343.4(HRAS):c.74A>G (p.Gln25Arg)
NM_005343.4(HRAS):c.88G>A (p.Asp30Asn) rs1226305644
NM_005343.4(HRAS):c.91G>C (p.Glu31Gln)
NM_005343.4(HRAS):c.97G>A (p.Asp33Asn) rs1851315835
NM_005343.4(HRAS):c.99C>A (p.Asp33Glu) rs756934316
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389

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