ClinVar Miner

List of variants in gene RIT1 reported as likely benign for Noonan syndrome

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00014
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.-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.156C>T (p.Pro52=) rs1571999270 0.00002
NM_006912.6(RIT1):c.430-16C>T rs1160848351 0.00002
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.141A>G (p.Pro47=) rs1057524417 0.00001
NM_006912.6(RIT1):c.163+12C>A rs372092063 0.00001
NM_006912.6(RIT1):c.164-11C>T rs960250196 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.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.252C>T (p.Ala84=) rs758393035 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.366A>G (p.Arg122=) rs755664065 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.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.510T>C (p.Tyr170=) rs765624804 0.00001
NM_006912.6(RIT1):c.516T>C (p.Asp172=) rs148764677 0.00001
NM_006912.6(RIT1):c.540G>A (p.Arg180=) rs369738767 0.00001
NM_006912.6(RIT1):c.564G>A (p.Glu188=) rs1157330685 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.651A>G (p.Ser217=) rs762892205 0.00001
NM_006912.6(RIT1):c.99G>A (p.Gly33=) rs199914900 0.00001
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.131A>T (p.His44Leu) rs2527197303
NM_006912.6(RIT1):c.156C>A (p.Pro52=)
NM_006912.6(RIT1):c.159C>T (p.Thr53=)
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.164-10C>T
NM_006912.6(RIT1):c.164-18C>G rs2102585269
NM_006912.6(RIT1):c.164-27_164-17dup rs2527182513
NM_006912.6(RIT1):c.164-5T>C rs2527182456
NM_006912.6(RIT1):c.164-6C>T
NM_006912.6(RIT1):c.237+12del rs763868802
NM_006912.6(RIT1):c.237+9T>C rs2527182174
NM_006912.6(RIT1):c.238-16C>T rs763494925
NM_006912.6(RIT1):c.238-9T>A rs2527180701
NM_006912.6(RIT1):c.246T>C (p.Phe82=)
NM_006912.6(RIT1):c.261C>T (p.Asp87=) rs983862584
NM_006912.6(RIT1):c.273G>A (p.Arg91=) rs2527180518
NM_006912.6(RIT1):c.285G>A (p.Gly95=)
NM_006912.6(RIT1):c.309G>C (p.Thr103=) rs370396152
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.33C>T (p.Cys11=)
NM_006912.6(RIT1):c.351T>C (p.Leu117=) rs2527180200
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.429+20T>C rs2102584651
NM_006912.6(RIT1):c.429+9A>G rs773277945
NM_006912.6(RIT1):c.430-18C>A rs777450446
NM_006912.6(RIT1):c.430-5T>C rs1571991209
NM_006912.6(RIT1):c.45C>T (p.Pro15=) rs748838734
NM_006912.6(RIT1):c.486G>A (p.Glu162=)
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.492T>C (p.Ser164=) rs2102581097
NM_006912.6(RIT1):c.498A>G (p.Ala166=)
NM_006912.6(RIT1):c.507C>T (p.Tyr169=) rs2102581057
NM_006912.6(RIT1):c.519T>C (p.Asp173=) rs1203053742
NM_006912.6(RIT1):c.531C>A (p.Ala177=) rs2527171427
NM_006912.6(RIT1):c.552G>A (p.Arg184=) rs1673290776
NM_006912.6(RIT1):c.570A>G (p.Val190=) rs2527171305
NM_006912.6(RIT1):c.578T>C (p.Met193Thr) rs1442986615
NM_006912.6(RIT1):c.588A>G (p.Lys196=)
NM_006912.6(RIT1):c.609A>G (p.Val203=) rs142974413
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006912.6(RIT1):c.657T>C (p.Thr219=)
NM_006912.6(RIT1):c.659G>A (p.Ter220=) rs2527170824
NM_006912.6(RIT1):c.72A>G (p.Leu24=) rs770237120
NM_006912.6(RIT1):c.93T>C (p.Gly31=) rs1202149849

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