ClinVar Miner

List of variants studied for Aspartylglucosaminuria by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 401
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00034
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_000027.4(AGA):c.806+3A>G rs368144874 0.00028
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000027.4(AGA):c.286A>T (p.Thr96Ser) rs184672077 0.00019
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000027.4(AGA):c.698+20C>T rs753356588 0.00012
NM_000027.4(AGA):c.109A>G (p.Lys37Glu) rs766776902 0.00010
NM_000027.4(AGA):c.150A>T (p.Gly50=) rs143210437 0.00009
NM_000027.4(AGA):c.807-12dup rs749999445 0.00009
NM_000027.4(AGA):c.127+13G>A rs376430029 0.00007
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656 0.00006
NM_000027.4(AGA):c.523C>T (p.Pro175Ser) rs367968495 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.282-6T>C rs749661341 0.00005
NM_000027.4(AGA):c.623-6T>C rs753309242 0.00005
NM_000027.4(AGA):c.75C>T (p.Ser25=) rs146683705 0.00005
NM_000027.4(AGA):c.127+16C>T rs745840548 0.00004
NM_000027.4(AGA):c.128-18T>C rs367922948 0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.281+12G>A rs754261269 0.00004
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000027.4(AGA):c.696T>C (p.His232=) rs1211143576 0.00003
NM_000027.4(AGA):c.854C>T (p.Ala285Val) rs763018918 0.00003
NM_000027.4(AGA):c.129G>A (p.Ala43=) rs780842670 0.00002
NM_000027.4(AGA):c.171G>A (p.Val57=) rs750795098 0.00002
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187 0.00002
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616 0.00002
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000027.4(AGA):c.698+10T>C rs756908895 0.00002
NM_000027.4(AGA):c.738T>C (p.Tyr246=) rs758804988 0.00002
NM_000027.4(AGA):c.987G>C (p.Met329Ile) rs774051527 0.00002
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078 0.00001
NM_000027.4(AGA):c.128-14G>A rs769452319 0.00001
NM_000027.4(AGA):c.153C>T (p.Gly51=) rs1404115808 0.00001
NM_000027.4(AGA):c.160C>T (p.Leu54=) rs992715539 0.00001
NM_000027.4(AGA):c.167C>T (p.Ala56Val) rs758886928 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser) rs1489211352 0.00001
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.204G>A (p.Gln68=) rs373209495 0.00001
NM_000027.4(AGA):c.219A>G (p.Val73=) rs999695070 0.00001
NM_000027.4(AGA):c.281+18G>A rs376346895 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.301G>A (p.Ala101Thr) rs752914246 0.00001
NM_000027.4(AGA):c.362A>G (p.His121Arg) rs1282622869 0.00001
NM_000027.4(AGA):c.38C>T (p.Pro13Leu) rs759832068 0.00001
NM_000027.4(AGA):c.390G>C (p.Glu130Asp) rs770240412 0.00001
NM_000027.4(AGA):c.394+10T>G rs781210455 0.00001
NM_000027.4(AGA):c.395-4C>T rs530298258 0.00001
NM_000027.4(AGA):c.402A>G (p.Thr134=) rs770449168 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.507+8C>T rs1371366618 0.00001
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.515T>C (p.Ile172Thr) rs745924498 0.00001
NM_000027.4(AGA):c.574A>G (p.Ile192Val) rs189159117 0.00001
NM_000027.4(AGA):c.600T>C (p.Asp200=) rs777128985 0.00001
NM_000027.4(AGA):c.604C>T (p.Arg202Cys) rs764539498 0.00001
NM_000027.4(AGA):c.636C>T (p.Ile212=) rs1384548395 0.00001
NM_000027.4(AGA):c.649C>T (p.His217Tyr) rs763070208 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.699-5C>T rs1324665450 0.00001
NM_000027.4(AGA):c.705A>G (p.Val235=) rs150175428 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.785T>C (p.Ile262Thr) rs772697272 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.807-15C>T rs746561546 0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys) rs1254844989 0.00001
NM_000027.4(AGA):c.837A>C (p.Gly279=) rs368840965 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.894A>G (p.Pro298=) rs760082787 0.00001
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120 0.00001
NM_000027.4(AGA):c.918T>C (p.Cys306=) rs749698472 0.00001
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000027.4(AGA):c.940G>A (p.Gly314Ser) rs149870867 0.00001
NM_000027.4(AGA):c.941-8G>T rs1458091976 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NC_000004.11:g.(?_178351918)_(178357515_?)del
NC_000004.11:g.(?_178352862)_(178358693_?)del
NC_000004.11:g.(?_178352862)_(178360031_?)del
NC_000004.11:g.(?_178352862)_(178363529_?)del
NC_000004.11:g.(?_178352862)_(178363529_?)dup
NC_000004.11:g.(?_178357420)_(178363667_?)del
NC_000004.11:g.(?_178363383)_(178363529_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
NM_000027.4(AGA):c.1006A>C (p.Asn336His) rs151105390
NM_000027.4(AGA):c.1007del (p.Asn336fs)
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
NM_000027.4(AGA):c.1017T>G (p.Thr339=) rs2111004518
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.1038C>A (p.Ile346=)
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
NM_000027.4(AGA):c.105C>T (p.Pro35=) rs199757656
NM_000027.4(AGA):c.120C>A (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.120C>T (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.127+11G>A
NM_000027.4(AGA):c.127+12C>T
NM_000027.4(AGA):c.127+14G>A
NM_000027.4(AGA):c.127+15C>T
NM_000027.4(AGA):c.127+16C>G
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127+5G>A rs1327701669
NM_000027.4(AGA):c.127+8T>C rs1227443826
NM_000027.4(AGA):c.127+9T>C
NM_000027.4(AGA):c.128-14G>C
NM_000027.4(AGA):c.128-18T>A
NM_000027.4(AGA):c.128-19A>G
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
NM_000027.4(AGA):c.135G>A (p.Arg45=)
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
NM_000027.4(AGA):c.153C>A (p.Gly51=) rs1404115808
NM_000027.4(AGA):c.159C>G (p.Ala53=)
NM_000027.4(AGA):c.15G>A (p.Ser5=) rs777972773
NM_000027.4(AGA):c.15G>T (p.Ser5=)
NM_000027.4(AGA):c.165T>C (p.Asp55=)
NM_000027.4(AGA):c.168A>C (p.Ala56=) rs2111021852
NM_000027.4(AGA):c.168A>G (p.Ala56=)
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.187dup (p.Met63fs) rs2111021738
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.210del (p.Asp70fs) rs1736955435
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.216T>C (p.Ser72=)
NM_000027.4(AGA):c.222C>T (p.Gly74=)
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
NM_000027.4(AGA):c.238G>C (p.Asp80His)
NM_000027.4(AGA):c.240T>C (p.Asp80=)
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
NM_000027.4(AGA):c.24T>G (p.Pro8=) rs34413111
NM_000027.4(AGA):c.259C>T (p.Leu87=)
NM_000027.4(AGA):c.268dup (p.Met90fs) rs2111021475
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
NM_000027.4(AGA):c.27G>C (p.Val9=) rs764924616
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
NM_000027.4(AGA):c.281+11C>T
NM_000027.4(AGA):c.281+12_281+13delinsAG
NM_000027.4(AGA):c.281+15C>G
NM_000027.4(AGA):c.281+18G>T rs376346895
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.281+8C>T rs2111021417
NM_000027.4(AGA):c.281+9A>G rs2111021413
NM_000027.4(AGA):c.282-10T>C rs2111020138
NM_000027.4(AGA):c.282-12A>G
NM_000027.4(AGA):c.282-17A>T
NM_000027.4(AGA):c.282-19G>A
NM_000027.4(AGA):c.282-9T>G rs2111020136
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.306A>T (p.Val102=)
NM_000027.4(AGA):c.308G>A (p.Gly103Glu) rs1736932419
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
NM_000027.4(AGA):c.319C>A (p.Arg107=) rs765070743
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.330T>C (p.Asn110=)
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.340G>A (p.Val114Met)
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.348G>A (p.Arg116=) rs2111019818
NM_000027.4(AGA):c.34G>C (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.394+13C>T
NM_000027.4(AGA):c.394+14T>C
NM_000027.4(AGA):c.394+18C>G
NM_000027.4(AGA):c.394+18C>T
NM_000027.4(AGA):c.394+20_394+21del
NM_000027.4(AGA):c.394+6T>C
NM_000027.4(AGA):c.394+7_394+10del rs761207366
NM_000027.4(AGA):c.394+9T>C
NM_000027.4(AGA):c.395-11C>G
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.395-14T>A
NM_000027.4(AGA):c.395-4C>G
NM_000027.4(AGA):c.395-5T>C
NM_000027.4(AGA):c.395-6C>A
NM_000027.4(AGA):c.395-7T>C rs2111018312
NM_000027.4(AGA):c.395-9A>T
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.402A>C (p.Thr134=)
NM_000027.4(AGA):c.411A>G (p.Gln137=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.426C>T (p.Ile142=)
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
NM_000027.4(AGA):c.432A>G (p.Glu144=) rs2111018169
NM_000027.4(AGA):c.435C>T (p.Asp145=) rs199682344
NM_000027.4(AGA):c.43C>T (p.Leu15=) rs149921310
NM_000027.4(AGA):c.453T>C (p.Ser151=)
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
NM_000027.4(AGA):c.454C>T (p.Gln152Ter) rs991950983
NM_000027.4(AGA):c.45G>T (p.Leu15=)
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
NM_000027.4(AGA):c.471T>C (p.Asp157=)
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
NM_000027.4(AGA):c.489C>T (p.Cys163=)
NM_000027.4(AGA):c.48C>A (p.Leu16=) rs749548544
NM_000027.4(AGA):c.48C>T (p.Leu16=) rs749548544
NM_000027.4(AGA):c.501T>C (p.Tyr167=)
NM_000027.4(AGA):c.507+10C>T rs1190000409
NM_000027.4(AGA):c.507+11A>T
NM_000027.4(AGA):c.507+20A>T
NM_000027.4(AGA):c.507+7A>G rs2111017976
NM_000027.4(AGA):c.507+9A>T
NM_000027.4(AGA):c.508-14A>C
NM_000027.4(AGA):c.508-16T>A
NM_000027.4(AGA):c.508-16T>G
NM_000027.4(AGA):c.508-18C>G rs762450535
NM_000027.4(AGA):c.508-18C>T
NM_000027.4(AGA):c.508-7T>C
NM_000027.4(AGA):c.509dup (p.Asn170fs) rs2111015936
NM_000027.4(AGA):c.510T>C (p.Asn170=) rs1736864324
NM_000027.4(AGA):c.519dup (p.Asp174fs) rs2111015862
NM_000027.4(AGA):c.528A>G (p.Ser176=)
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.530A>G (p.Lys177Arg) rs1189458949
NM_000027.4(AGA):c.534C>T (p.Tyr178=)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.537C>T (p.Cys179=) rs748171793
NM_000027.4(AGA):c.540A>C (p.Gly180=)
NM_000027.4(AGA):c.543C>A (p.Pro181=)
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
NM_000027.4(AGA):c.549A>G (p.Lys183=) rs2111015751
NM_000027.4(AGA):c.552A>C (p.Pro184=)
NM_000027.4(AGA):c.552A>G (p.Pro184=)
NM_000027.4(AGA):c.555_558del (p.Gly186fs) rs1736861131
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
NM_000027.4(AGA):c.559A>G (p.Ile187Val) rs2111015706
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000027.4(AGA):c.570G>A (p.Gln190=) rs111633694
NM_000027.4(AGA):c.57C>G (p.Ala19=)
NM_000027.4(AGA):c.57C>T (p.Ala19=) rs1737062444
NM_000027.4(AGA):c.582C>A (p.Ile194=)
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.58C>T (p.Leu20=) rs758423275
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.611A>T (p.His204Leu)
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
NM_000027.4(AGA):c.622+9_622+15dup
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-17T>C
NM_000027.4(AGA):c.623-18T>G rs2111013629
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.623-3T>C
NM_000027.4(AGA):c.623-4C>G
NM_000027.4(AGA):c.623-9A>C rs1388029418
NM_000027.4(AGA):c.624C>T (p.Gly208=)
NM_000027.4(AGA):c.63G>A (p.Val21=) rs1737061654
NM_000027.4(AGA):c.665del (p.Thr222fs)
NM_000027.4(AGA):c.66C>T (p.Arg22=)
NM_000027.4(AGA):c.687C>T (p.Phe229=)
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+11C>A
NM_000027.4(AGA):c.698+13A>G
NM_000027.4(AGA):c.698+14A>G
NM_000027.4(AGA):c.698+19A>C
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1del rs2111013273
NM_000027.4(AGA):c.698+2T>C rs2111013260
NM_000027.4(AGA):c.699-11C>A
NM_000027.4(AGA):c.699-11C>T
NM_000027.4(AGA):c.699-12A>G
NM_000027.4(AGA):c.699-17T>C
NM_000027.4(AGA):c.699-9C>G
NM_000027.4(AGA):c.699-9C>T
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
NM_000027.4(AGA):c.701G>A (p.Arg234His)
NM_000027.4(AGA):c.705A>C (p.Val235=)
NM_000027.4(AGA):c.708A>G (p.Gly236=) rs2111009301
NM_000027.4(AGA):c.711C>T (p.Asp237=)
NM_000027.4(AGA):c.723T>G (p.Pro241=)
NM_000027.4(AGA):c.72C>T (p.Ser24=)
NM_000027.4(AGA):c.741T>C (p.Ala247=) rs2111009204
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
NM_000027.4(AGA):c.750T>C (p.Thr250=) rs2111009153
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.756G>A (p.Gly252=) rs2111009133
NM_000027.4(AGA):c.756G>T (p.Gly252=)
NM_000027.4(AGA):c.757G>A (p.Ala253Thr) rs1736735409
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
NM_000027.4(AGA):c.771T>G (p.Thr257=) rs1736734050
NM_000027.4(AGA):c.774G>C (p.Gly258=)
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
NM_000027.4(AGA):c.780T>C (p.Gly260=) rs1579040275
NM_000027.4(AGA):c.787T>C (p.Leu263=)
NM_000027.4(AGA):c.789G>A (p.Leu263=) rs2111008977
NM_000027.4(AGA):c.791T>C (p.Met264Thr) rs1404090170
NM_000027.4(AGA):c.795C>T (p.Arg265=) rs2111008931
NM_000027.4(AGA):c.797dup (p.Leu267fs)
NM_000027.4(AGA):c.79C>T (p.Leu27=)
NM_000027.4(AGA):c.801G>T (p.Leu267=) rs1736730616
NM_000027.4(AGA):c.806+11T>G
NM_000027.4(AGA):c.806+12T>A
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.806+13dup
NM_000027.4(AGA):c.806+14G>C
NM_000027.4(AGA):c.806+19T>C
NM_000027.4(AGA):c.806+20G>A
NM_000027.4(AGA):c.806+7C>A
NM_000027.4(AGA):c.807-11G>C
NM_000027.4(AGA):c.807-17A>C
NM_000027.4(AGA):c.807-1G>A
NM_000027.4(AGA):c.807-3C>T
NM_000027.4(AGA):c.807-8T>A
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
NM_000027.4(AGA):c.810C>T (p.Tyr270=)
NM_000027.4(AGA):c.816T>C (p.Ala272=)
NM_000027.4(AGA):c.81G>T (p.Leu27=)
NM_000027.4(AGA):c.822A>G (p.Glu274=) rs2111007039
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del) rs764622951
NM_000027.4(AGA):c.844C>G (p.Pro282Ala) rs2111006963
NM_000027.4(AGA):c.84C>T (p.Pro28=) rs182442304
NM_000027.4(AGA):c.852A>T (p.Ile284=) rs540397394
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter) rs1736687730
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
NM_000027.4(AGA):c.865G>A (p.Val289Met)
NM_000027.4(AGA):c.867G>C (p.Val289=)
NM_000027.4(AGA):c.870T>C (p.Ile290=)
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
NM_000027.4(AGA):c.879C>T (p.Ile293=)
NM_000027.4(AGA):c.897A>G (p.Glu299=) rs2111006864
NM_000027.4(AGA):c.900C>A (p.Phe300Leu) rs2111006859
NM_000027.4(AGA):c.902T>G (p.Phe301Cys) rs35916166
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
NM_000027.4(AGA):c.906G>A (p.Gly302=) rs2111006840
NM_000027.4(AGA):c.90C>G (p.Val30=)
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
NM_000027.4(AGA):c.936T>C (p.Ser312=)
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
NM_000027.4(AGA):c.940+13T>C
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+20T>C
NM_000027.4(AGA):c.940+8G>A rs2111006715
NM_000027.4(AGA):c.940+8G>T rs2111006715
NM_000027.4(AGA):c.940+9T>C rs2111006710
NM_000027.4(AGA):c.941-17C>T
NM_000027.4(AGA):c.941-20T>C
NM_000027.4(AGA):c.941-7G>T rs748346003
NM_000027.4(AGA):c.948T>C (p.Ala316=)
NM_000027.4(AGA):c.960T>G (p.Leu320=)
NM_000027.4(AGA):c.966A>G (p.Thr322=) rs753625719
NM_000027.4(AGA):c.978T>C (p.Phe326=) rs373878347
NM_000027.4(AGA):c.978T>G (p.Phe326Leu) rs373878347
NM_000027.4(AGA):c.999C>G (p.Ser333=) rs1479579564
NM_000027.4(AGA):c.99T>C (p.Thr33=) rs2111028048
NM_000027.4(AGA):c.9del (p.Lys4fs)

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.