ClinVar Miner

List of variants in gene RIT1 studied for Noonan syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn) rs145034964 0.00012
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006912.6(RIT1):c.231T>C (p.Ala77=) rs144170253 0.00004
NM_006912.6(RIT1):c.291C>A (p.Ile97=) rs377326705 0.00004
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) rs745807905 0.00004
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) rs764347644 0.00004
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006912.6(RIT1):c.498A>C (p.Ala166=) rs375734733 0.00003
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) rs763208084 0.00003
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006912.6(RIT1):c.368G>A (p.Arg123His) rs977405637 0.00002
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) rs545031201 0.00002
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.106+10A>G rs781557110 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.163+12C>A rs372092063 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006912.6(RIT1):c.164-11C>T rs960250196 0.00001
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.237+14G>C rs772575179 0.00001
NM_006912.6(RIT1):c.238-19G>A rs753538357 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_006912.6(RIT1):c.252C>T (p.Ala84=) rs758393035 0.00001
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln) rs1185965337 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) rs1177306699 0.00001
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790 0.00001
NM_006912.6(RIT1):c.423A>G (p.Leu141=) rs763445246 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) rs1372704169 0.00001
NM_006912.6(RIT1):c.510T>C (p.Tyr170=) rs765624804 0.00001
NM_006912.6(RIT1):c.516T>C (p.Asp172=) rs148764677 0.00001
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln) rs760845441 0.00001
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767 0.00001
NM_006912.6(RIT1):c.548G>A (p.Arg183His) rs1673291082 0.00001
NM_006912.6(RIT1):c.564G>A (p.Glu188=) rs1157330685 0.00001
NM_006912.6(RIT1):c.575C>T (p.Ala192Val) rs376391961 0.00001
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410 0.00001
NM_006912.6(RIT1):c.603C>T (p.Asn201=) rs367886540 0.00001
NM_006912.6(RIT1):c.99G>A (p.Gly33=) rs199914900 0.00001
NC_000001.10:g.(?_155870159)_(155880696_?)dup
NC_000001.10:g.(?_155870179)_(155880552_?)dup
NC_000001.10:g.(?_155874092)_(155880686_?)dup
NC_000001.10:g.(?_155877093)_(155880300_?)del
NM_006912.6(RIT1):c.107-12C>T
NM_006912.6(RIT1):c.107-13_107-10del
NM_006912.6(RIT1):c.107-6T>G
NM_006912.6(RIT1):c.107-9C>A
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg) rs2102591257
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala) rs1557962699
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.116T>A (p.Met39Lys) rs2102590945
NM_006912.6(RIT1):c.116T>C (p.Met39Thr) rs2102590945
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu) rs2102591253
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
NM_006912.6(RIT1):c.131A>T (p.His44Leu)
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) rs1673569021
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
NM_006912.6(RIT1):c.145G>C (p.Asp49His) rs2102590904
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.152A>T (p.Asp51Val)
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.156C>T (p.Pro52=) rs1571999270
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
NM_006912.6(RIT1):c.163+10A>G
NM_006912.6(RIT1):c.163+12C>T
NM_006912.6(RIT1):c.163+16A>C
NM_006912.6(RIT1):c.163+17C>G
NM_006912.6(RIT1):c.163+5G>T rs1673568021
NM_006912.6(RIT1):c.164-18C>G
NM_006912.6(RIT1):c.164-27_164-17dup
NM_006912.6(RIT1):c.164-5T>C
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup) rs1673399028
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
NM_006912.6(RIT1):c.237+11C>A
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.237+18G>A
NM_006912.6(RIT1):c.237+19T>A
NM_006912.6(RIT1):c.237+9T>C
NM_006912.6(RIT1):c.238-16C>T rs763494925
NM_006912.6(RIT1):c.238-2dup rs1298539810
NM_006912.6(RIT1):c.238-9T>A
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.292A>T (p.Ile98Phe)
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.309G>A (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
NM_006912.6(RIT1):c.321T>C (p.Ser107=) rs2102584781
NM_006912.6(RIT1):c.326A>T (p.His109Leu) rs1407666045
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
NM_006912.6(RIT1):c.381A>C (p.Thr127=) rs1206873288
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
NM_006912.6(RIT1):c.387G>A (p.Val129=)
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
NM_006912.6(RIT1):c.429+15G>A
NM_006912.6(RIT1):c.429+20T>C rs2102584651
NM_006912.6(RIT1):c.429+9A>G
NM_006912.6(RIT1):c.430-16C>T
NM_006912.6(RIT1):c.430-18C>A
NM_006912.6(RIT1):c.430-18C>T
NM_006912.6(RIT1):c.430-5T>C rs1571991209
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) rs2102581107
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
NM_006912.6(RIT1):c.492T>C (p.Ser164=) rs2102581097
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) rs924364497
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
NM_006912.6(RIT1):c.552G>A (p.Arg184=) rs1673290776
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
NM_006912.6(RIT1):c.570A>G (p.Val190=)
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
NM_006912.6(RIT1):c.609A>G (p.Val203=)
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
NM_006912.6(RIT1):c.634del (p.Arg212fs)
NM_006912.6(RIT1):c.638del (p.Lys213fs)
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006912.6(RIT1):c.644_647del (p.Lys215fs) rs766063111
NM_006912.6(RIT1):c.645del (p.Asp216fs) rs1673288090
NM_006912.6(RIT1):c.649del (p.Ser217fs) rs1673287696
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.67A>G (p.Lys23Glu) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.72A>G (p.Leu24=) rs770237120
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala) rs2102591265
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006912.6(RIT1):c.93T>C (p.Gly31=)

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