ClinVar Miner

List of variants studied for Carpenter syndrome

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Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_004282.4(BAG2):c.*4959T>C rs11398 0.15738
NM_016277.5(RAB23):c.*416G>C rs1411578 0.15575
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_004282.4(BAG2):c.*5020C>T rs182662 0.01805
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_004282.4(BAG2):c.*5351G>C rs530900959 0.00011
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_004282.4(BAG2):c.*4604_*4606dup rs886061651 0.00006
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_000006.12:g.(?_57186982)_(57222324_?)del
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
NM_001271938.2(MEGF8):c.7005+1G>T rs1224632697
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
NM_004282.4(BAG2):c.*5084TGAT[3] rs139778770
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=)

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