ClinVar Miner

List of variants in gene combination HRAS, LRRC56 reported as likely benign for Costello syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005343.4(HRAS):c.102C>T (p.Pro34=) rs149199691 0.00014
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005343.4(HRAS):c.177C>T (p.Ala59=) rs730880456 0.00010
NM_005343.4(HRAS):c.42G>A (p.Val14=) rs777038147 0.00006
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712 0.00005
NM_005343.4(HRAS):c.249C>T (p.Ala83=) rs111372582 0.00004
NM_005343.4(HRAS):c.258C>T (p.Asn86=) rs765849763 0.00004
NM_005343.4(HRAS):c.309G>A (p.Val103=) rs575789207 0.00004
NM_005343.4(HRAS):c.363T>C (p.Ala121=) rs146440188 0.00004
NM_005343.4(HRAS):c.460G>A (p.Asp154Asn) rs745497215 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635 0.00004
NM_005343.4(HRAS):c.153C>T (p.Cys51=) rs759482455 0.00003
NM_005343.4(HRAS):c.282C>T (p.His94=) rs375893752 0.00003
NM_005343.4(HRAS):c.291-13T>G rs755995550 0.00003
NM_005343.4(HRAS):c.291-8C>T rs1057522962 0.00003
NM_005343.4(HRAS):c.412G>A (p.Gly138Ser) rs397517142 0.00003
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285 0.00003
NM_005343.4(HRAS):c.57G>C (p.Leu19=) rs761648389 0.00003
NM_005343.4(HRAS):c.112-19G>A rs755577443 0.00002
NM_005343.4(HRAS):c.358C>T (p.Leu120=) rs397517139 0.00002
NM_005343.4(HRAS):c.450+17C>T rs367869009 0.00002
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614 0.00002
NM_005343.4(HRAS):c.84T>C (p.Phe28=) rs915086641 0.00002
NM_005343.4(HRAS):c.111+11C>T rs758933104 0.00001
NM_005343.4(HRAS):c.111+14C>T rs372917082 0.00001
NM_005343.4(HRAS):c.111+17C>T rs1851313358 0.00001
NM_005343.4(HRAS):c.111+18G>A rs759743352 0.00001
NM_005343.4(HRAS):c.112-10C>T rs727503092 0.00001
NM_005343.4(HRAS):c.112-13T>A rs766582484 0.00001
NM_005343.4(HRAS):c.112-9C>T rs1851288449 0.00001
NM_005343.4(HRAS):c.120C>T (p.Tyr40=) rs763920334 0.00001
NM_005343.4(HRAS):c.126G>A (p.Lys42=) rs775378080 0.00001
NM_005343.4(HRAS):c.141T>C (p.Asp47=) rs765092617 0.00001
NM_005343.4(HRAS):c.150G>A (p.Thr50=) rs1057520421 0.00001
NM_005343.4(HRAS):c.15G>A (p.Lys5=) rs1368820132 0.00001
NM_005343.4(HRAS):c.171T>C (p.Asp57=) rs776105083 0.00001
NM_005343.4(HRAS):c.174C>T (p.Thr58=) rs746639086 0.00001
NM_005343.4(HRAS):c.198C>T (p.Ala66=) rs1851279330 0.00001
NM_005343.4(HRAS):c.202C>A (p.Arg68=) rs1370690781 0.00001
NM_005343.4(HRAS):c.210G>A (p.Gln70=) rs1371974169 0.00001
NM_005343.4(HRAS):c.219C>T (p.Arg73=) rs749870259 0.00001
NM_005343.4(HRAS):c.228G>A (p.Glu76=) rs1057522598 0.00001
NM_005343.4(HRAS):c.231C>T (p.Gly77=) rs1182602668 0.00001
NM_005343.4(HRAS):c.235C>T (p.Leu79=) rs193163027 0.00001
NM_005343.4(HRAS):c.24G>C (p.Val8=) rs1451160542 0.00001
NM_005343.4(HRAS):c.288C>T (p.Tyr96=) rs367794954 0.00001
NM_005343.4(HRAS):c.290+14G>A rs780757384 0.00001
NM_005343.4(HRAS):c.291-16G>A rs779917193 0.00001
NM_005343.4(HRAS):c.291-17C>T rs753558541 0.00001
NM_005343.4(HRAS):c.291-9del rs749335082 0.00001
NM_005343.4(HRAS):c.30C>T (p.Gly10=) rs752765965 0.00001
NM_005343.4(HRAS):c.318G>A (p.Ser106=) rs1053376922 0.00001
NM_005343.4(HRAS):c.324C>T (p.Asp108=) rs770260347 0.00001
NM_005343.4(HRAS):c.33C>T (p.Ala11=) rs1162804656 0.00001
NM_005343.4(HRAS):c.360G>C (p.Leu120=) rs1851245565 0.00001
NM_005343.4(HRAS):c.411C>T (p.Tyr137=) rs1471385417 0.00001
NM_005343.4(HRAS):c.426C>T (p.Ile142=) rs533567288 0.00001
NM_005343.4(HRAS):c.435G>A (p.Ser145=) rs747008553 0.00001
NM_005343.4(HRAS):c.441G>A (p.Lys147=) rs777386438 0.00001
NM_005343.4(HRAS):c.450+15C>T rs1851235106 0.00001
NM_005343.4(HRAS):c.450+16A>G rs754589455 0.00001
NM_005343.4(HRAS):c.450+18C>T rs1057522255 0.00001
NM_005343.4(HRAS):c.451-13C>T rs761468352 0.00001
NM_005343.4(HRAS):c.451-14C>T rs367678988 0.00001
NM_005343.4(HRAS):c.451-8T>C rs373444310 0.00001
NM_005343.4(HRAS):c.462T>C (p.Asp154=) rs1412169294 0.00001
NM_005343.4(HRAS):c.465C>T (p.Ala155=) rs375878504 0.00001
NM_005343.4(HRAS):c.468C>T (p.Phe156=) rs770648642 0.00001
NM_005343.4(HRAS):c.474G>A (p.Thr158=) rs747269683 0.00001
NM_005343.4(HRAS):c.492G>A (p.Arg164=) rs1461319720 0.00001
NM_005343.4(HRAS):c.498C>A (p.His166Gln) rs878854760 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005343.4(HRAS):c.516C>T (p.Asn172=) rs765180494 0.00001
NM_005343.4(HRAS):c.519T>G (p.Pro173=) rs759004302 0.00001
NM_005343.4(HRAS):c.537C>T (p.Pro179=) rs371316832 0.00001
NM_005343.4(HRAS):c.6G>A (p.Thr2=) rs751944063 0.00001
NM_005343.4(HRAS):c.90C>T (p.Asp30=) rs745489020 0.00001
NM_005343.4(HRAS):c.102C>G (p.Pro34=) rs149199691
NM_005343.4(HRAS):c.105T>C (p.Thr35=)
NM_005343.4(HRAS):c.111+10G>A rs1401412098
NM_005343.4(HRAS):c.111+12G>A
NM_005343.4(HRAS):c.111+15G>C
NM_005343.4(HRAS):c.111+7C>T rs374130868
NM_005343.4(HRAS):c.111+8T>C rs2133994019
NM_005343.4(HRAS):c.112-12G>A rs1851288777
NM_005343.4(HRAS):c.112-13T>C rs766582484
NM_005343.4(HRAS):c.112-14C>G
NM_005343.4(HRAS):c.112-14C>T rs753906417
NM_005343.4(HRAS):c.112-17G>T
NM_005343.4(HRAS):c.112-18A>T
NM_005343.4(HRAS):c.112-19G>C rs755577443
NM_005343.4(HRAS):c.112-20dup rs2133992078
NM_005343.4(HRAS):c.112-4G>A rs1589792986
NM_005343.4(HRAS):c.112-6C>T rs2133991944
NM_005343.4(HRAS):c.112-7C>T rs756348934
NM_005343.4(HRAS):c.112-7_112-5del rs1347169680
NM_005343.4(HRAS):c.123G>C (p.Arg41=) rs762706292
NM_005343.4(HRAS):c.12T>C (p.Tyr4=) rs2133995153
NM_005343.4(HRAS):c.135C>T (p.Val45=)
NM_005343.4(HRAS):c.138T>C (p.Ile46=) rs1851286467
NM_005343.4(HRAS):c.144G>A (p.Gly48=) rs1589792926
NM_005343.4(HRAS):c.147G>A (p.Glu49=) rs2133991462
NM_005343.4(HRAS):c.150G>C (p.Thr50=)
NM_005343.4(HRAS):c.150G>T (p.Thr50=) rs1057520421
NM_005343.4(HRAS):c.156G>A (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.156G>T (p.Leu52=) rs1060504681
NM_005343.4(HRAS):c.157T>C (p.Leu53=)
NM_005343.4(HRAS):c.159G>A (p.Leu53=) rs1205035369
NM_005343.4(HRAS):c.162C>T (p.Asp54=) rs1057520410
NM_005343.4(HRAS):c.165C>T (p.Ile55=) rs1261188136
NM_005343.4(HRAS):c.166C>T (p.Leu56=) rs2133991227
NM_005343.4(HRAS):c.16C>T (p.Leu6=) rs763376142
NM_005343.4(HRAS):c.177C>G (p.Ala59=) rs730880456
NM_005343.4(HRAS):c.183G>A (p.Gln61=)
NM_005343.4(HRAS):c.189G>A (p.Glu63=)
NM_005343.4(HRAS):c.192C>T (p.Tyr64=) rs2133990881
NM_005343.4(HRAS):c.195C>T (p.Ser65=) rs898057728
NM_005343.4(HRAS):c.21G>C (p.Val7=)
NM_005343.4(HRAS):c.222C>G (p.Thr74=) rs372223975
NM_005343.4(HRAS):c.225G>C (p.Gly75=)
NM_005343.4(HRAS):c.234C>T (p.Phe78=) rs1057522882
NM_005343.4(HRAS):c.237G>A (p.Leu79=) rs767586105
NM_005343.4(HRAS):c.237G>T (p.Leu79=) rs767586105
NM_005343.4(HRAS):c.243G>A (p.Val81=)
NM_005343.4(HRAS):c.249C>G (p.Ala83=) rs111372582
NM_005343.4(HRAS):c.255C>T (p.Asn85=) rs759463996
NM_005343.4(HRAS):c.261C>T (p.Thr87=) rs1851272766
NM_005343.4(HRAS):c.273G>A (p.Glu91=) rs1851272074
NM_005343.4(HRAS):c.279C>T (p.Ile93=) rs2133989886
NM_005343.4(HRAS):c.284A>G (p.Gln95Arg) rs2133989835
NM_005343.4(HRAS):c.290+10G>A rs769212136
NM_005343.4(HRAS):c.290+10G>C rs769212136
NM_005343.4(HRAS):c.290+11T>C
NM_005343.4(HRAS):c.290+15G>A
NM_005343.4(HRAS):c.290+15G>C
NM_005343.4(HRAS):c.290+16C>T
NM_005343.4(HRAS):c.290+19G>C
NM_005343.4(HRAS):c.290+19G>T
NM_005343.4(HRAS):c.290+7C>G
NM_005343.4(HRAS):c.290+7C>T
NM_005343.4(HRAS):c.290+9C>T rs747854581
NM_005343.4(HRAS):c.291-10C>T rs1397119284
NM_005343.4(HRAS):c.291-11C>T
NM_005343.4(HRAS):c.291-15C>A rs1404106769
NM_005343.4(HRAS):c.291-15C>T rs1404106769
NM_005343.4(HRAS):c.291-16G>C rs779917193
NM_005343.4(HRAS):c.291-17C>G rs753558541
NM_005343.4(HRAS):c.291-18T>C rs758646567
NM_005343.4(HRAS):c.291-4_291-3del rs1589791952
NM_005343.4(HRAS):c.291-5C>G
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005343.4(HRAS):c.291-9A>G rs1564789180
NM_005343.4(HRAS):c.291G>A (p.Arg97=)
NM_005343.4(HRAS):c.297G>A (p.Gln99=) rs199656012
NM_005343.4(HRAS):c.300C>T (p.Ile100=) rs2133987967
NM_005343.4(HRAS):c.304C>A (p.Arg102=) rs1057517913
NM_005343.4(HRAS):c.306G>A (p.Arg102=)
NM_005343.4(HRAS):c.312G>A (p.Lys104=) rs1060504682
NM_005343.4(HRAS):c.315C>T (p.Asp105=) rs1229925274
NM_005343.4(HRAS):c.330C>A (p.Pro110=)
NM_005343.4(HRAS):c.339G>A (p.Leu113=) rs878854759
NM_005343.4(HRAS):c.342G>A (p.Val114=)
NM_005343.4(HRAS):c.342G>C (p.Val114=) rs2133987502
NM_005343.4(HRAS):c.345G>A (p.Gly115=) rs2133987449
NM_005343.4(HRAS):c.351G>A (p.Lys117=)
NM_005343.4(HRAS):c.366A>G (p.Ala122=) rs755980627
NM_005343.4(HRAS):c.375G>A (p.Val125=) rs1851243465
NM_005343.4(HRAS):c.375G>C (p.Val125=) rs1851243465
NM_005343.4(HRAS):c.386A>G (p.Gln129Arg) rs1851242529
NM_005343.4(HRAS):c.390T>G (p.Ala130=) rs2133986915
NM_005343.4(HRAS):c.393G>A (p.Gln131=) rs2133986872
NM_005343.4(HRAS):c.396C>T (p.Asp132=) rs975107534
NM_005343.4(HRAS):c.399C>T (p.Leu133=) rs761180869
NM_005343.4(HRAS):c.402C>G (p.Ala134=) rs773270401
NM_005343.4(HRAS):c.402C>T (p.Ala134=)
NM_005343.4(HRAS):c.408C>T (p.Ser136=) rs2133986691
NM_005343.4(HRAS):c.414C>A (p.Gly138=) rs2133986610
NM_005343.4(HRAS):c.417C>T (p.Ile139=) rs2133986571
NM_005343.4(HRAS):c.418C>T (p.Pro140Ser) rs144001095
NM_005343.4(HRAS):c.420C>T (p.Pro140=) rs2133986528
NM_005343.4(HRAS):c.423C>T (p.Tyr141=) rs1589791513
NM_005343.4(HRAS):c.429G>A (p.Glu143=)
NM_005343.4(HRAS):c.435G>C (p.Ser145=) rs747008553
NM_005343.4(HRAS):c.438C>A (p.Ala146=) rs1851236604
NM_005343.4(HRAS):c.438C>T (p.Ala146=)
NM_005343.4(HRAS):c.447G>A (p.Arg149=) rs2133986135
NM_005343.4(HRAS):c.450+13T>C rs752168787
NM_005343.4(HRAS):c.450+14C>T
NM_005343.4(HRAS):c.450+18C>A
NM_005343.4(HRAS):c.450+19C>T
NM_005343.4(HRAS):c.450+20C>A rs201524241
NM_005343.4(HRAS):c.450+20C>G rs201524241
NM_005343.4(HRAS):c.450+20C>T
NM_005343.4(HRAS):c.450+7C>T
NM_005343.4(HRAS):c.450+9G>A
NM_005343.4(HRAS):c.451-10C>T rs1589789759
NM_005343.4(HRAS):c.451-12C>T rs1204923566
NM_005343.4(HRAS):c.451-13C>A rs761468352
NM_005343.4(HRAS):c.451-14C>A
NM_005343.4(HRAS):c.451-15T>C rs1644141623
NM_005343.4(HRAS):c.451-16A>G
NM_005343.4(HRAS):c.451-17C>T rs754150592
NM_005343.4(HRAS):c.451-19C>T
NM_005343.4(HRAS):c.451-20T>G
NM_005343.4(HRAS):c.451-22_451-8dup rs1159599721
NM_005343.4(HRAS):c.451-4C>G
NM_005343.4(HRAS):c.451-4C>T rs1589789708
NM_005343.4(HRAS):c.451-5C>G rs370181298
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005343.4(HRAS):c.451-6T>C rs1480423930
NM_005343.4(HRAS):c.451-9C>T rs763872424
NM_005343.4(HRAS):c.459G>A (p.Glu153=) rs2133982634
NM_005343.4(HRAS):c.45C>G (p.Gly15=)
NM_005343.4(HRAS):c.460G>T (p.Asp154Tyr)
NM_005343.4(HRAS):c.474G>C (p.Thr158=)
NM_005343.4(HRAS):c.480G>C (p.Val160=) rs2133982437
NM_005343.4(HRAS):c.483T>C (p.Arg161=) rs2133982410
NM_005343.4(HRAS):c.489C>A (p.Ile163=) rs2133982379
NM_005343.4(HRAS):c.495G>A (p.Gln165=) rs2133982327
NM_005343.4(HRAS):c.518C>G (p.Pro173Arg)
NM_005343.4(HRAS):c.522T>C (p.Pro174=)
NM_005343.4(HRAS):c.531T>C (p.Ser177=)
NM_005343.4(HRAS):c.534C>T (p.Gly178=)
NM_005343.4(HRAS):c.535C>G (p.Pro179Ala) rs1201430199
NM_005343.4(HRAS):c.540C>A (p.Gly180=)
NM_005343.4(HRAS):c.540C>T (p.Gly180=) rs976055009
NM_005343.4(HRAS):c.54G>C (p.Ala18=) rs148380285
NM_005343.4(HRAS):c.555G>A (p.Lys185=) rs1230514063
NM_005343.4(HRAS):c.55C>T (p.Leu19=) rs2133994674
NM_005343.4(HRAS):c.564C>G (p.Leu188=) rs2133981970
NM_005343.4(HRAS):c.567C>G (p.Ser189=) rs1324657141
NM_005343.4(HRAS):c.567C>T (p.Ser189=)
NM_005343.4(HRAS):c.60C>T (p.Thr20=) rs774042283
NM_005343.4(HRAS):c.67C>T (p.Leu23=)
NM_005343.4(HRAS):c.69G>A (p.Leu23=) rs1589793671
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
NM_005343.4(HRAS):c.99C>T (p.Asp33=) rs756934316

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