ClinVar Miner

List of variants in gene RAB23 studied for Carpenter syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 172
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_016277.5(RAB23):c.481+5A>G rs150762175 0.00259
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_016277.5(RAB23):c.482-13C>G rs372666007 0.00037
NM_016277.5(RAB23):c.51T>C (p.Asn17=) rs141279756 0.00026
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala) rs138803099 0.00016
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610 0.00016
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349 0.00013
NM_016277.5(RAB23):c.675G>A (p.Lys225=) rs781622209 0.00010
NM_016277.5(RAB23):c.594T>G (p.Gly198=) rs151203723 0.00009
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp) rs776515230 0.00006
NM_016277.5(RAB23):c.123C>T (p.Thr41=) rs759408401 0.00005
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271 0.00004
NM_016277.5(RAB23):c.255T>C (p.Cys85=) rs374601145 0.00004
NM_016277.5(RAB23):c.481+10C>T rs546078370 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser) rs748638791 0.00004
NM_016277.5(RAB23):c.57A>G (p.Ala19=) rs750598308 0.00002
NM_016277.5(RAB23):c.606C>T (p.Ser202=) rs771204930 0.00002
NM_016277.5(RAB23):c.117G>A (p.Lys39=) rs771469793 0.00001
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter) rs1049674573 0.00001
NM_016277.5(RAB23):c.155+6dup rs761067059 0.00001
NM_016277.5(RAB23):c.184T>C (p.Leu62=) rs779101760 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.222T>C (p.Ile74=) rs759497648 0.00001
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro) rs766250966 0.00001
NM_016277.5(RAB23):c.24C>T (p.Val8=) rs752991124 0.00001
NM_016277.5(RAB23):c.327C>T (p.Ala109=) rs370959474 0.00001
NM_016277.5(RAB23):c.333G>A (p.Val111=) rs749833240 0.00001
NM_016277.5(RAB23):c.351A>G (p.Val117=) rs751291871 0.00001
NM_016277.5(RAB23):c.398+10C>T rs897972213 0.00001
NM_016277.5(RAB23):c.398+9G>A rs376839366 0.00001
NM_016277.5(RAB23):c.399-6G>A rs778655052 0.00001
NM_016277.5(RAB23):c.426G>A (p.Arg142=) rs763680429 0.00001
NM_016277.5(RAB23):c.482-9T>G rs777259479 0.00001
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077 0.00001
NM_016277.5(RAB23):c.547C>T (p.Leu183=) rs1473586028 0.00001
NM_016277.5(RAB23):c.555T>C (p.His185=) rs765954442 0.00001
NM_016277.5(RAB23):c.574+10T>C rs754164616 0.00001
NM_016277.5(RAB23):c.574+8C>T rs779119268 0.00001
NM_016277.5(RAB23):c.582T>C (p.Phe194=) rs1332930442 0.00001
NM_016277.5(RAB23):c.603C>T (p.His201=) rs372315508 0.00001
NM_016277.5(RAB23):c.627C>T (p.Leu209=) rs1318546806 0.00001
NM_016277.5(RAB23):c.693T>C (p.Phe231=) rs1764796444 0.00001
NM_016277.5(RAB23):c.699C>T (p.Ser233=) rs755447089 0.00001
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NC_000006.11:g.(?_57061071)_(57061424_?)del
NC_000006.11:g.(?_57075004)_(57075178_?)del
NC_000006.12:g.(?_57186982)_(57222324_?)del
NM_016277.5(RAB23):c.*600AATT[1] rs886061654
NM_016277.5(RAB23):c.105A>G (p.Thr35=) rs576194133
NM_016277.5(RAB23):c.108A>G (p.Lys36=)
NM_016277.5(RAB23):c.114C>T (p.Tyr38=) rs888229513
NM_016277.5(RAB23):c.126T>C (p.Ile42=)
NM_016277.5(RAB23):c.12A>G (p.Glu4=)
NM_016277.5(RAB23):c.132T>G (p.Val44=) rs2128004147
NM_016277.5(RAB23):c.139T>C (p.Leu47=)
NM_016277.5(RAB23):c.142G>T (p.Glu48Ter) rs1765602287
NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
NM_016277.5(RAB23):c.155+11G>A
NM_016277.5(RAB23):c.155+11G>C
NM_016277.5(RAB23):c.155+17T>C
NM_016277.5(RAB23):c.155+8C>T rs2128004127
NM_016277.5(RAB23):c.156-14A>G
NM_016277.5(RAB23):c.156-1G>C rs373724159
NM_016277.5(RAB23):c.156-20_156-17del
NM_016277.5(RAB23):c.156-8T>C rs1593221684
NM_016277.5(RAB23):c.156-8T>G
NM_016277.5(RAB23):c.156-9T>C rs1380069219
NM_016277.5(RAB23):c.156-9_156-8del
NM_016277.5(RAB23):c.165T>C (p.Asp55=)
NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
NM_016277.5(RAB23):c.177A>G (p.Arg59=)
NM_016277.5(RAB23):c.17del (p.Met6fs) rs1765608519
NM_016277.5(RAB23):c.186A>G (p.Leu62=) rs2128002898
NM_016277.5(RAB23):c.207G>A (p.Glu69=)
NM_016277.5(RAB23):c.21A>G (p.Glu7=)
NM_016277.5(RAB23):c.234C>T (p.Tyr78=) rs2128002860
NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
NM_016277.5(RAB23):c.241+10A>G rs2128002855
NM_016277.5(RAB23):c.241+16T>G
NM_016277.5(RAB23):c.242-17_242-16insATTC
NM_016277.5(RAB23):c.242-20G>C
NM_016277.5(RAB23):c.242-31ATTG[4] rs45542438
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.242-6T>C rs2127998723
NM_016277.5(RAB23):c.242-7C>T
NM_016277.5(RAB23):c.261C>G (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.261C>T (p.Leu87=) rs764774207
NM_016277.5(RAB23):c.273C>G (p.Thr91=)
NM_016277.5(RAB23):c.273C>T (p.Thr91=)
NM_016277.5(RAB23):c.279T>C (p.Asp93=)
NM_016277.5(RAB23):c.27C>T (p.Ala9=)
NM_016277.5(RAB23):c.285A>G (p.Glu95=) rs2127998702
NM_016277.5(RAB23):c.312A>G (p.Arg104=)
NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
NM_016277.5(RAB23):c.321A>C (p.Val107=)
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.33G>A (p.Lys11=)
NM_016277.5(RAB23):c.357G>A (p.Val119=)
NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG rs2127998544
NM_016277.5(RAB23):c.376C>T (p.Leu126=)
NM_016277.5(RAB23):c.387T>C (p.Ser129=) rs1593210265
NM_016277.5(RAB23):c.390T>C (p.Cys130=) rs2127998627
NM_016277.5(RAB23):c.398+18G>A
NM_016277.5(RAB23):c.398+9G>T rs376839366
NM_016277.5(RAB23):c.399-15T>A
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.399-7T>C
NM_016277.5(RAB23):c.399-9G>T rs1764963102
NM_016277.5(RAB23):c.421A>T (p.Lys141Ter) rs2127998022
NM_016277.5(RAB23):c.426del (p.Arg142fs)
NM_016277.5(RAB23):c.429A>G (p.Leu143=) rs1186623990
NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
NM_016277.5(RAB23):c.435A>G (p.Leu145=) rs2127998004
NM_016277.5(RAB23):c.453A>C (p.Ser151=)
NM_016277.5(RAB23):c.467del (p.Leu156fs)
NM_016277.5(RAB23):c.474G>A (p.Val158=)
NM_016277.5(RAB23):c.481+16del
NM_016277.5(RAB23):c.481+17G>A
NM_016277.5(RAB23):c.481+18del
NM_016277.5(RAB23):c.481+19A>G
NM_016277.5(RAB23):c.481+1G>A
NM_016277.5(RAB23):c.481+4A>C
NM_016277.5(RAB23):c.481+7T>A rs2127997989
NM_016277.5(RAB23):c.481+8A>C rs2127997988
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.482-10T>C
NM_016277.5(RAB23):c.482-12T>G
NM_016277.5(RAB23):c.482-14T>G
NM_016277.5(RAB23):c.482-1_486del rs2127997697
NM_016277.5(RAB23):c.482-20G>A
NM_016277.5(RAB23):c.482-20del
NM_016277.5(RAB23):c.482-7A>G rs1221714796
NM_016277.5(RAB23):c.482-8T>G rs1303194537
NM_016277.5(RAB23):c.48G>A (p.Gly16=)
NM_016277.5(RAB23):c.48G>T (p.Gly16=)
NM_016277.5(RAB23):c.495G>A (p.Leu165=)
NM_016277.5(RAB23):c.4T>C (p.Leu2=) rs1593223928
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.510T>C (p.Leu170=) rs1764929463
NM_016277.5(RAB23):c.522dup (p.Gln175fs)
NM_016277.5(RAB23):c.525A>G (p.Gln175=)
NM_016277.5(RAB23):c.526C>T (p.Gln176Ter) rs2127997677
NM_016277.5(RAB23):c.549A>G (p.Leu183=) rs2127997659
NM_016277.5(RAB23):c.551C>T (p.Thr184Met) rs140295281
NM_016277.5(RAB23):c.552G>C (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.552G>T (p.Thr184=)
NM_016277.5(RAB23):c.574+20T>G
NM_016277.5(RAB23):c.574+7A>G
NM_016277.5(RAB23):c.575-12C>A
NM_016277.5(RAB23):c.575-15C>T
NM_016277.5(RAB23):c.575-5T>A
NM_016277.5(RAB23):c.575-7T>A rs2127996399
NM_016277.5(RAB23):c.575-8_575-5dup rs1429640163
NM_016277.5(RAB23):c.576T>G (p.Gly192=) rs2127996390
NM_016277.5(RAB23):c.57A>C (p.Ala19=)
NM_016277.5(RAB23):c.590C>T (p.Ser197Phe) rs2127996379
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
NM_016277.5(RAB23):c.60T>G (p.Val20=) rs2128004188
NM_016277.5(RAB23):c.642C>T (p.Val214=) rs1593204004
NM_016277.5(RAB23):c.712T>G (p.Ter238Glu) rs751619487
NM_016277.5(RAB23):c.82del (p.Arg28fs) rs2128004184
NM_016277.5(RAB23):c.90C>T (p.Cys30=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.