ClinVar Miner

List of variants in gene RIT1 studied for Noonan syndrome 8

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.-21G>C rs493446 0.81133
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00014
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.-43-74G>A rs730881012 0.00003
NM_006912.6(RIT1):c.45C>G (p.Pro15=) rs748838734 0.00003
NM_006912.6(RIT1):c.465A>G (p.Glu155=) rs2527171604 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.156C>T (p.Pro52=) rs1571999270 0.00002
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.430-16C>T rs1160848351 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.107-12C>T rs2527197428 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006912.6(RIT1):c.108C>T (p.Ala36=) rs962881455 0.00001
NM_006912.6(RIT1):c.120G>A (p.Gln40=) rs1015730634 0.00001
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr) rs765636979 0.00001
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly) rs1316625491 0.00001
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr) rs1673568941 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.141A>G (p.Pro47=) rs1057524417 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.17G>C (p.Arg6Pro) rs1255067143 0.00001
NM_006912.6(RIT1):c.18C>T (p.Arg6=) rs1376159930 0.00001
NM_006912.6(RIT1):c.201G>A (p.Glu67=) rs1254003235 0.00001
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr) rs1394425355 0.00001
NM_006912.6(RIT1):c.237+11C>A rs775926859 0.00001
NM_006912.6(RIT1):c.237+14G>C rs772575179 0.00001
NM_006912.6(RIT1):c.237+18G>A rs1344958293 0.00001
NM_006912.6(RIT1):c.237+19T>A rs746073428 0.00001
NM_006912.6(RIT1):c.238-12G>C rs999740208 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.258G>A (p.Arg86=) rs909585898 0.00001
NM_006912.6(RIT1):c.264G>A (p.Gln88=) rs774818471 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.335G>A (p.Arg112His) rs1396631322 0.00001
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu) rs1354654957 0.00001
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr) rs1177306699 0.00001
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln) rs777520196 0.00001
NM_006912.6(RIT1):c.366A>G (p.Arg122=) rs755664065 0.00001
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn) rs760053864 0.00001
NM_006912.6(RIT1):c.381A>C (p.Thr127=) rs1206873288 0.00001
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790 0.00001
NM_006912.6(RIT1):c.408A>G (p.Ser136=) rs766640740 0.00001
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn) rs1294529693 0.00001
NM_006912.6(RIT1):c.421C>T (p.Leu141=) rs931615845 0.00001
NM_006912.6(RIT1):c.423A>G (p.Leu141=) rs763445246 0.00001
NM_006912.6(RIT1):c.429+15G>A rs1404087606 0.00001
NM_006912.6(RIT1):c.430-18C>T rs777450446 0.00001
NM_006912.6(RIT1):c.441A>G (p.Glu147=) rs778896290 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.503G>A (p.Arg168His) rs938749530 0.00001
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn) rs1673292525 0.00001
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys) rs750755911 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.532C>G (p.Leu178Val) rs730881013 0.00001
NM_006912.6(RIT1):c.535G>A (p.Val179Ile) rs1236865086 0.00001
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp) rs764151643 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.547C>T (p.Arg183Cys) rs770853133 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.578T>G (p.Met193Arg) rs1442986615 0.00001
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn) rs1333491071 0.00001
NM_006912.6(RIT1):c.594G>A (p.Lys198=) rs779457410 0.00001
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser) rs372170139 0.00001
NM_006912.6(RIT1):c.603C>T (p.Asn201=) rs367886540 0.00001
NM_006912.6(RIT1):c.651A>G (p.Ser217=) rs762892205 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)_(155874615_?)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.106+16C>T
NM_006912.6(RIT1):c.107-13_107-10del rs750688522
NM_006912.6(RIT1):c.107-6T>G rs2527197409
NM_006912.6(RIT1):c.107-9C>A rs200597833
NM_006912.6(RIT1):c.109A>G (p.Met37Val)
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) rs2102590960
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.128G>C (p.Ser43Thr) rs1400808611
NM_006912.6(RIT1):c.134G>A (p.Arg45Gln)
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu) rs1673569021
NM_006912.6(RIT1):c.142G>A (p.Glu48Lys)
NM_006912.6(RIT1):c.145G>C (p.Asp49His) rs2102590904
NM_006912.6(RIT1):c.146A>T (p.Asp49Val) rs2527197273
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile) rs2527198125
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr) rs869025190
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu) rs1571999275
NM_006912.6(RIT1):c.156C>A (p.Pro52=)
NM_006912.6(RIT1):c.159C>T (p.Thr53=)
NM_006912.6(RIT1):c.162T>A (p.Ile54=) rs1474550449
NM_006912.6(RIT1):c.163+10A>G rs758651076
NM_006912.6(RIT1):c.163+12C>T rs372092063
NM_006912.6(RIT1):c.163+16A>C rs2527197178
NM_006912.6(RIT1):c.163+16_163+18dup
NM_006912.6(RIT1):c.163+17C>G rs201898950
NM_006912.6(RIT1):c.163+17C>T
NM_006912.6(RIT1):c.163+5G>T rs1673568021
NM_006912.6(RIT1):c.164-10C>T
NM_006912.6(RIT1):c.164-18C>G rs2102585269
NM_006912.6(RIT1):c.164-21_164-16del
NM_006912.6(RIT1):c.164-27_164-17dup rs2527182513
NM_006912.6(RIT1):c.164-5T>A
NM_006912.6(RIT1):c.164-5T>C rs2527182456
NM_006912.6(RIT1):c.164-6C>T
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp) rs2527182321
NM_006912.6(RIT1):c.211C>G (p.Leu71Val) rs777167776
NM_006912.6(RIT1):c.212_213del (p.Leu71fs) rs2527182295
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) rs1193358245
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) rs1673398956
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.237+15_237+50del
NM_006912.6(RIT1):c.237+9T>C rs2527182174
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 rs2527180701
NM_006912.6(RIT1):c.23T>C (p.Val8Ala) rs977203137
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>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>C (p.Phe82=)
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) rs1673390942
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp) rs1420077819
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.260A>C (p.Asp87Ala)
NM_006912.6(RIT1):c.261C>T (p.Asp87=) rs983862584
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) rs1557960039
NM_006912.6(RIT1):c.269T>C (p.Met90Thr)
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=) rs2527180518
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser) rs2527180513
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.285G>A (p.Gly95=)
NM_006912.6(RIT1):c.292A>T (p.Ile98Phe) rs2102584814
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr) rs1673577896
NM_006912.6(RIT1):c.304A>G (p.Ile102Val) rs886041962
NM_006912.6(RIT1):c.308C>T (p.Thr103Met) rs1673389476
NM_006912.6(RIT1):c.309G>A (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.309G>C (p.Thr103=) rs370396152
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn) rs2527180393
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys) rs2527180386
NM_006912.6(RIT1):c.316C>A (p.Arg106=) rs779947152
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.338A>C (p.Glu113Ala)
NM_006912.6(RIT1):c.338A>T (p.Glu113Val) rs1673388771
NM_006912.6(RIT1):c.33C>T (p.Cys11=)
NM_006912.6(RIT1):c.351T>C (p.Leu117=) rs2527180200
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln) rs753425443
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly) rs752204910
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala) rs1333509248
NM_006912.6(RIT1):c.381A>G (p.Thr127=) rs1206873288
NM_006912.6(RIT1):c.384T>C (p.Pro128=) rs2527179996
NM_006912.6(RIT1):c.387G>A (p.Val129=) rs2527179983
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser) rs2527179959
NM_006912.6(RIT1):c.401A>T (p.Asn134Ile)
NM_006912.6(RIT1):c.413T>C (p.Leu138Pro)
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg) rs2527179934
NM_006912.6(RIT1):c.429+20T>C rs2102584651
NM_006912.6(RIT1):c.429+9A>G rs773277945
NM_006912.6(RIT1):c.430-11dup
NM_006912.6(RIT1):c.430-18C>A rs777450446
NM_006912.6(RIT1):c.430-5T>C rs1571991209
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala) rs2527171675
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala) rs2527171650
NM_006912.6(RIT1):c.45C>T (p.Pro15=) rs748838734
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn) rs2527171591
NM_006912.6(RIT1):c.486G>A (p.Glu162=)
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile) rs2102581107
NM_006912.6(RIT1):c.489A>G (p.Thr163=) rs766952004
NM_006912.6(RIT1):c.48T>C (p.Ala16=) rs1673577134
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys) rs1183271427
NM_006912.6(RIT1):c.492T>C (p.Ser164=) rs2102581097
NM_006912.6(RIT1):c.498A>G (p.Ala166=)
NM_006912.6(RIT1):c.49G>T (p.Gly17Trp)
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn) rs924364497
NM_006912.6(RIT1):c.507C>T (p.Tyr169=) rs2102581057
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu) rs2527197964
NM_006912.6(RIT1):c.519T>C (p.Asp173=) rs1203053742
NM_006912.6(RIT1):c.520G>A (p.Val174Ile) rs2527171453
NM_006912.6(RIT1):c.531C>A (p.Ala177=) rs2527171427
NM_006912.6(RIT1):c.53T>G (p.Leu18Arg)
NM_006912.6(RIT1):c.546A>G (p.Ile182Met) rs1673291260
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly) rs1453467370
NM_006912.6(RIT1):c.551G>C (p.Arg184Thr) rs1401658925
NM_006912.6(RIT1):c.551G>T (p.Arg184Met) rs1401658925
NM_006912.6(RIT1):c.552G>A (p.Arg184=) rs1673290776
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln) rs1673290609
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn) rs2527171330
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr) rs2527171316
NM_006912.6(RIT1):c.566C>T (p.Ala189Val) rs749213571
NM_006912.6(RIT1):c.570A>G (p.Val190=) rs2527171305
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln) rs769724664
NM_006912.6(RIT1):c.577A>T (p.Met193Leu)
NM_006912.6(RIT1):c.578T>C (p.Met193Thr) rs1442986615
NM_006912.6(RIT1):c.583A>G (p.Lys195Glu)
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr) rs2527171213
NM_006912.6(RIT1):c.587A>T (p.Lys196Ile)
NM_006912.6(RIT1):c.588A>G (p.Lys196=)
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln) rs2102580861
NM_006912.6(RIT1):c.59G>A (p.Arg20Gln)
NM_006912.6(RIT1):c.604_605del (p.Ser202fs) rs2527171140
NM_006912.6(RIT1):c.607G>A (p.Val203Ile) rs2527171130
NM_006912.6(RIT1):c.609A>G (p.Val203=) rs142974413
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys) rs138290726
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr) rs138290726
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser) rs1673288777
NM_006912.6(RIT1):c.634del (p.Arg212fs) rs2527171070
NM_006912.6(RIT1):c.638A>G (p.Lys213Arg)
NM_006912.6(RIT1):c.638del (p.Lys213fs) rs2527171042
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006912.6(RIT1):c.644A>C (p.Lys215Thr)
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) rs767498196
NM_006912.6(RIT1):c.657T>C (p.Thr219=)
NM_006912.6(RIT1):c.659G>A (p.Ter220=) rs2527170824
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=) rs1202149849

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