ClinVar Miner

List of variants studied for infantile-onset X-linked spinal muscular atrophy by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 551
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) rs2230147 0.08755
NM_003334.4(UBA1):c.1742-11G>C rs5953010 0.08744
NM_003334.4(UBA1):c.1742-18G>A rs5953009 0.03846
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) rs143044923 0.00683
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) rs2228658 0.00548
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=) rs145177450 0.00356
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_003334.4(UBA1):c.346-3C>A rs149947901 0.00271
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) rs148382699 0.00253
NM_003334.4(UBA1):c.2595A>G (p.Ala865=) rs139492208 0.00247
NM_003334.4(UBA1):c.1233+13G>A rs141049438 0.00241
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_003334.4(UBA1):c.480+19C>G rs200340536 0.00125
NM_003334.4(UBA1):c.909+12G>A rs367556596 0.00095
NM_003334.4(UBA1):c.117+9C>T rs371344095 0.00088
NM_003334.4(UBA1):c.648A>G (p.Pro216=) rs146676571 0.00067
NM_003334.4(UBA1):c.39C>T (p.Ser13=) rs141450062 0.00048
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_003334.4(UBA1):c.873C>T (p.Ile291=) rs143062483 0.00041
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00035
NM_003334.4(UBA1):c.176+13A>G rs186890744 0.00034
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00033
NM_003334.4(UBA1):c.132C>T (p.Asn44=) rs368727585 0.00028
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr) rs187589555 0.00025
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr) rs149478641 0.00024
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_003334.4(UBA1):c.2793G>T (p.Leu931=) rs782340410 0.00023
NM_003334.4(UBA1):c.1049G>A (p.Arg350His) rs5906354 0.00020
NM_003334.4(UBA1):c.2733G>A (p.Lys911=) rs149284493 0.00019
NM_003334.4(UBA1):c.2878G>T (p.Val960Leu) rs186224021 0.00018
NM_003334.4(UBA1):c.904A>G (p.Ser302Gly) rs200541240 0.00017
NM_003334.4(UBA1):c.346-10A>C rs782089237 0.00016
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg) rs146180431 0.00016
NM_003334.4(UBA1):c.1149C>T (p.Ile383=) rs782140742 0.00013
NM_003334.4(UBA1):c.2842T>G (p.Tyr948Asp) rs781929195 0.00012
NM_003334.4(UBA1):c.2979C>T (p.Gly993=) rs145283250 0.00012
NM_003334.4(UBA1):c.753A>G (p.Ser251=) rs141505579 0.00012
NM_003334.4(UBA1):c.812-4G>A rs372842152 0.00011
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) rs139130383 0.00010
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) rs782484295 0.00010
NM_003334.4(UBA1):c.2003+12G>A rs373695438 0.00010
NM_003334.4(UBA1):c.388G>C (p.Val130Leu) rs782523969 0.00010
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) rs185589110 0.00009
NM_003334.4(UBA1):c.1156C>T (p.Leu386=) rs782722368 0.00008
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg) rs373305404 0.00008
NM_003334.4(UBA1):c.1665C>T (p.Asp555=) rs376109672 0.00008
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr) rs371005753 0.00008
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly) rs782120956 0.00008
NM_003334.4(UBA1):c.679-16C>T rs200690232 0.00008
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu) rs781842141 0.00007
NM_003334.4(UBA1):c.253G>A (p.Val85Met) rs782796398 0.00007
NM_003334.4(UBA1):c.720C>T (p.His240=) rs193168226 0.00007
NM_003334.4(UBA1):c.117+15C>T rs782784799 0.00006
NM_003334.4(UBA1):c.1356C>T (p.Asp452=) rs375669736 0.00006
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn) rs200629777 0.00006
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) rs782799228 0.00006
NM_003334.4(UBA1):c.1197C>T (p.Ala399=) rs782593880 0.00005
NM_003334.4(UBA1):c.1233+8C>T rs1178927745 0.00005
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) rs150198324 0.00005
NM_003334.4(UBA1):c.1791G>A (p.Glu597=) rs372366129 0.00005
NM_003334.4(UBA1):c.2839-7C>T rs199797125 0.00005
NM_003334.4(UBA1):c.678+18A>T rs782509809 0.00005
NM_003334.4(UBA1):c.798G>A (p.Glu266=) rs202041421 0.00005
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) rs148642741 0.00004
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp) rs201504752 0.00004
NM_003334.4(UBA1):c.1610G>A (p.Arg537His) rs372418523 0.00004
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile) rs782106589 0.00004
NM_003334.4(UBA1):c.177-11del rs781797300 0.00004
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) rs782085921 0.00004
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=) rs781864389 0.00004
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser) rs149161653 0.00004
NM_003334.4(UBA1):c.411G>A (p.Glu137=) rs782009712 0.00004
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) rs782435953 0.00004
NM_003334.4(UBA1):c.1077A>C (p.Val359=) rs782342123 0.00003
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) rs781909775 0.00003
NM_003334.4(UBA1):c.1152G>A (p.Arg384=) rs782140095 0.00003
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala) rs1556788859 0.00003
NM_003334.4(UBA1):c.1576-19C>T rs782315217 0.00003
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) rs781873529 0.00003
NM_003334.4(UBA1):c.176+18C>T rs782702800 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2275-7C>T rs782291288 0.00003
NM_003334.4(UBA1):c.2309A>G (p.Asn770Ser) rs1178361928 0.00003
NM_003334.4(UBA1):c.2359G>A (p.Val787Met) rs1204889932 0.00003
NM_003334.4(UBA1):c.2391C>T (p.Pro797=) rs1556793279 0.00003
NM_003334.4(UBA1):c.2661A>G (p.Ala887=) rs782783941 0.00003
NM_003334.4(UBA1):c.2838+17G>A rs1467681554 0.00003
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys) rs1466232811 0.00003
NM_003334.4(UBA1):c.2913C>T (p.Thr971=) rs782810108 0.00003
NM_003334.4(UBA1):c.2982G>T (p.Val994=) rs782156608 0.00003
NM_003334.4(UBA1):c.31C>T (p.Arg11Cys) rs1556786387 0.00003
NM_003334.4(UBA1):c.436G>A (p.Ala146Thr) rs781969406 0.00003
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala) rs782084400 0.00003
NM_003334.4(UBA1):c.733G>A (p.Gly245Arg) rs781803482 0.00003
NM_003334.4(UBA1):c.852C>T (p.Ser284=) rs781839047 0.00003
NM_003334.4(UBA1):c.910-8C>T rs374197052 0.00003
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys) rs200206019 0.00003
NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg) rs550631811 0.00002
NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser) rs782429883 0.00002
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) rs1261345480 0.00002
NM_003334.4(UBA1):c.1115C>A (p.Ala372Glu) rs782051479 0.00002
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) rs782354395 0.00002
NM_003334.4(UBA1):c.117+10C>T rs1390029777 0.00002
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr) rs917269296 0.00002
NM_003334.4(UBA1):c.1173T>C (p.Ala391=) rs781783732 0.00002
NM_003334.4(UBA1):c.118-10C>T rs1288832522 0.00002
NM_003334.4(UBA1):c.1234-9C>T rs374680331 0.00002
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe) rs781838601 0.00002
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) rs1028156593 0.00002
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg) rs888369922 0.00002
NM_003334.4(UBA1):c.1420-8C>T rs782038176 0.00002
NM_003334.4(UBA1):c.1485G>A (p.Gly495=) rs782721809 0.00002
NM_003334.4(UBA1):c.1638A>G (p.Thr546=) rs201169336 0.00002
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) rs1215231057 0.00002
NM_003334.4(UBA1):c.1818T>C (p.Asn606=) rs782565505 0.00002
NM_003334.4(UBA1):c.1851G>A (p.Ser617=) rs782523119 0.00002
NM_003334.4(UBA1):c.1875T>C (p.Pro625=) rs1361428166 0.00002
NM_003334.4(UBA1):c.210C>T (p.Leu70=) rs191969626 0.00002
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=) rs782394637 0.00002
NM_003334.4(UBA1):c.2460T>C (p.Ser820=) rs782208544 0.00002
NM_003334.4(UBA1):c.2464+9_2464+16del rs782707059 0.00002
NM_003334.4(UBA1):c.2465-17T>C rs1354603007 0.00002
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) rs1556793806 0.00002
NM_003334.4(UBA1):c.2724G>A (p.Glu908=) rs376593996 0.00002
NM_003334.4(UBA1):c.2725C>T (p.Leu909=) rs1268375603 0.00002
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) rs782070102 0.00002
NM_003334.4(UBA1):c.2940+4A>G rs782751765 0.00002
NM_003334.4(UBA1):c.2949C>T (p.His983=) rs139697760 0.00002
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu) rs1185350232 0.00002
NM_003334.4(UBA1):c.3133G>A (p.Gly1045Ser) rs782451807 0.00002
NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser) rs1164940967 0.00002
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe) rs782536219 0.00002
NM_003334.4(UBA1):c.486G>A (p.Val162=) rs370643219 0.00002
NM_003334.4(UBA1):c.499A>G (p.Thr167Ala) rs781828163 0.00002
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln) rs782068633 0.00002
NM_003334.4(UBA1):c.687C>T (p.Pro229=) rs782311444 0.00002
NM_003334.4(UBA1):c.741T>G (p.Phe247Leu) rs1556788006 0.00002
NM_003334.4(UBA1):c.781G>A (p.Gly261Arg) rs199512751 0.00002
NM_003334.4(UBA1):c.812-8C>T rs1196797596 0.00002
NM_003334.4(UBA1):c.819T>C (p.Tyr273=) rs782480767 0.00002
NM_003334.4(UBA1):c.863G>A (p.Arg288His) rs782554153 0.00002
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) rs1365209491 0.00002
NM_003334.4(UBA1):c.910-7G>A rs782321523 0.00002
NM_003334.4(UBA1):c.93C>T (p.Ser31=) rs782703384 0.00002
NM_003334.4(UBA1):c.954G>A (p.Thr318=) rs368506746 0.00002
NM_003334.4(UBA1):c.1014G>C (p.Gln338His) rs1157237217 0.00001
NM_003334.4(UBA1):c.1047C>T (p.Pro349=) rs782664927 0.00001
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe) rs1341394275 0.00001
NM_003334.4(UBA1):c.117+16G>A rs375750779 0.00001
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) rs1556788826 0.00001
NM_003334.4(UBA1):c.1339-9A>G rs782104383 0.00001
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys) rs570568650 0.00001
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=) rs1488418187 0.00001
NM_003334.4(UBA1):c.1401C>G (p.Gly467=) rs782569910 0.00001
NM_003334.4(UBA1):c.147C>T (p.Asp49=) rs1556786556 0.00001
NM_003334.4(UBA1):c.1576-20G>A rs377335190 0.00001
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met) rs1556790800 0.00001
NM_003334.4(UBA1):c.1710C>T (p.Gly570=) rs1556790843 0.00001
NM_003334.4(UBA1):c.1758C>T (p.Arg586=) rs782655127 0.00001
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) rs1318594436 0.00001
NM_003334.4(UBA1):c.1929C>T (p.His643=) rs782419696 0.00001
NM_003334.4(UBA1):c.2053T>C (p.Leu685=) rs781839671 0.00001
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln) rs782425809 0.00001
NM_003334.4(UBA1):c.2115C>T (p.Asp705=) rs1481710267 0.00001
NM_003334.4(UBA1):c.2118C>T (p.Cys706=) rs782597501 0.00001
NM_003334.4(UBA1):c.2136C>T (p.His712=) rs781845476 0.00001
NM_003334.4(UBA1):c.2187C>T (p.Phe729=) rs1480401128 0.00001
NM_003334.4(UBA1):c.2202C>A (p.Leu734=) rs1556793129 0.00001
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) rs1556793160 0.00001
NM_003334.4(UBA1):c.231A>G (p.Val77=) rs1556786690 0.00001
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg) rs868922840 0.00001
NM_003334.4(UBA1):c.2371C>T (p.Leu791=) rs1556793265 0.00001
NM_003334.4(UBA1):c.2412C>T (p.Gly804=) rs201456998 0.00001
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln) rs782097752 0.00001
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser) rs781800261 0.00001
NM_003334.4(UBA1):c.2474G>A (p.Arg825His) rs781852793 0.00001
NM_003334.4(UBA1):c.2504G>A (p.Ser835Asn) rs782586380 0.00001
NM_003334.4(UBA1):c.2554-6T>C rs370565575 0.00001
NM_003334.4(UBA1):c.2567A>G (p.Asn856Ser) rs374003677 0.00001
NM_003334.4(UBA1):c.2575A>G (p.Met859Val) rs782649232 0.00001
NM_003334.4(UBA1):c.2584A>G (p.Ile862Val) rs1351999233 0.00001
NM_003334.4(UBA1):c.2586C>T (p.Ile862=) rs150512668 0.00001
NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala) rs782749176 0.00001
NM_003334.4(UBA1):c.2640G>C (p.Arg880=) rs1262504002 0.00001
NM_003334.4(UBA1):c.2688G>A (p.Thr896=) rs781811327 0.00001
NM_003334.4(UBA1):c.2742G>C (p.Gln914His) rs1487402125 0.00001
NM_003334.4(UBA1):c.2754G>C (p.Gln918His) rs782576505 0.00001
NM_003334.4(UBA1):c.2763C>G (p.Ser921=) rs1317157419 0.00001
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr) rs1556794067 0.00001
NM_003334.4(UBA1):c.2831G>A (p.Arg944His) rs782687555 0.00001
NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys) rs781997101 0.00001
NM_003334.4(UBA1):c.2893C>G (p.Pro965Ala) rs1556794528 0.00001
NM_003334.4(UBA1):c.2933A>G (p.Tyr978Cys) rs782527493 0.00001
NM_003334.4(UBA1):c.2941-14C>T rs782755186 0.00001
NM_003334.4(UBA1):c.303A>G (p.Leu101=) rs782052238 0.00001
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=) rs782246207 0.00001
NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys) rs782810802 0.00001
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=) rs781808756 0.00001
NM_003334.4(UBA1):c.330T>G (p.Ala110=) rs781828321 0.00001
NM_003334.4(UBA1):c.34G>T (p.Val12Leu) rs982155788 0.00001
NM_003334.4(UBA1):c.360G>A (p.Glu120=) rs782436604 0.00001
NM_003334.4(UBA1):c.453C>T (p.Leu151=) rs782803598 0.00001
NM_003334.4(UBA1):c.465C>T (p.Phe155=) rs1556787010 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003334.4(UBA1):c.573G>A (p.Thr191=) rs1556787692 0.00001
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly) rs200692291 0.00001
NM_003334.4(UBA1):c.603C>T (p.Asp201=) rs782085880 0.00001
NM_003334.4(UBA1):c.663T>A (p.Val221=) rs782741702 0.00001
NM_003334.4(UBA1):c.734G>A (p.Gly245Glu) rs1409013948 0.00001
NM_003334.4(UBA1):c.97G>A (p.Val33Met) rs1449173671 0.00001
NC_000023.10:g.(?_47058202)_(47074328_?)del
NC_000023.10:g.(?_47058202)_(47074328_?)dup
NM_003334.4(UBA1):c.1011C>G (p.His337Gln) rs1044559809
NM_003334.4(UBA1):c.1031G>T (p.Gly344Val)
NM_003334.4(UBA1):c.1038A>G (p.Pro346=) rs1936453717
NM_003334.4(UBA1):c.1041T>A (p.Pro347=) rs2147259947
NM_003334.4(UBA1):c.1042C>T (p.Arg348Trp)
NM_003334.4(UBA1):c.1043G>A (p.Arg348Gln)
NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys) rs1556788657
NM_003334.4(UBA1):c.1054G>A (p.Glu352Lys) rs2147260047
NM_003334.4(UBA1):c.1056+14C>T
NM_003334.4(UBA1):c.1056+20A>G
NM_003334.4(UBA1):c.1057-19G>T
NM_003334.4(UBA1):c.1057-6C>T
NM_003334.4(UBA1):c.1064C>T (p.Ala355Val)
NM_003334.4(UBA1):c.106G>A (p.Val36Met) rs990805894
NM_003334.4(UBA1):c.1089G>T (p.Gln363His)
NM_003334.4(UBA1):c.1090G>A (p.Ala364Thr)
NM_003334.4(UBA1):c.1094T>C (p.Val365Ala) rs2147260730
NM_003334.4(UBA1):c.1114G>A (p.Ala372Thr) rs2147260791
NM_003334.4(UBA1):c.1115C>G (p.Ala372Gly)
NM_003334.4(UBA1):c.1115C>T (p.Ala372Val) rs782051479
NM_003334.4(UBA1):c.1131C>G (p.Asn377Lys) rs1936465009
NM_003334.4(UBA1):c.1138G>A (p.Glu380Lys)
NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr) rs1556788813
NM_003334.4(UBA1):c.1163A>G (p.Tyr388Cys)
NM_003334.4(UBA1):c.118-10C>G
NM_003334.4(UBA1):c.118-11_118-3del rs2147250233
NM_003334.4(UBA1):c.118-1G>C rs2147250287
NM_003334.4(UBA1):c.118-2A>C rs2147250283
NM_003334.4(UBA1):c.1194C>T (p.Asn398=) rs782489931
NM_003334.4(UBA1):c.1201A>T (p.Ile401Phe)
NM_003334.4(UBA1):c.1218C>T (p.Ala406=) rs2147261112
NM_003334.4(UBA1):c.121A>C (p.Met41Leu) rs1936307795
NM_003334.4(UBA1):c.121A>G (p.Met41Val) rs1936307795
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003334.4(UBA1):c.1233+15G>A
NM_003334.4(UBA1):c.1233+20G>C
NM_003334.4(UBA1):c.1233+9G>A
NM_003334.4(UBA1):c.1234-14C>T
NM_003334.4(UBA1):c.1234-18C>T
NM_003334.4(UBA1):c.1234-19_1234-16del
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
NM_003334.4(UBA1):c.1257C>T (p.Pro419=)
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
NM_003334.4(UBA1):c.1281T>C (p.Asp427=) rs2147261868
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser) rs1936478450
NM_003334.4(UBA1):c.1308A>G (p.Lys436=)
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly) rs1936479502
NM_003334.4(UBA1):c.1335C>T (p.Leu445=)
NM_003334.4(UBA1):c.1338+15C>T
NM_003334.4(UBA1):c.1338+23dup
NM_003334.4(UBA1):c.1338+4T>C
NM_003334.4(UBA1):c.1339-17C>T
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
NM_003334.4(UBA1):c.1368T>C (p.Ala456=)
NM_003334.4(UBA1):c.1377C>T (p.Gly459=) rs2147262470
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
NM_003334.4(UBA1):c.1383C>A (p.Asp461Glu)
NM_003334.4(UBA1):c.1389A>G (p.Gln463=)
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) rs782565391
NM_003334.4(UBA1):c.1420-18T>C rs372944361
NM_003334.4(UBA1):c.1420-18T>G rs372944361
NM_003334.4(UBA1):c.1420-5C>T
NM_003334.4(UBA1):c.1420-6T>G
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
NM_003334.4(UBA1):c.1435A>C (p.Ile479Leu)
NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr) rs1602635435
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
NM_003334.4(UBA1):c.1516G>A (p.Asp506Asn) rs2147263751
NM_003334.4(UBA1):c.1523T>C (p.Ile508Thr)
NM_003334.4(UBA1):c.1533A>G (p.Ser511=) rs2147263778
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
NM_003334.4(UBA1):c.1557C>T (p.Phe519=)
NM_003334.4(UBA1):c.1569T>C (p.Asp523=) rs1602635564
NM_003334.4(UBA1):c.1575+9G>C
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
NM_003334.4(UBA1):c.1612C>A (p.Gln538Lys)
NM_003334.4(UBA1):c.1617G>A (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) rs80356545
NM_003334.4(UBA1):c.1628T>C (p.Ile543Thr)
NM_003334.4(UBA1):c.1631G>A (p.Arg544Gln) rs1556790802
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
NM_003334.4(UBA1):c.1673G>A (p.Arg558His) rs782746954
NM_003334.4(UBA1):c.1676T>A (p.Ile559Asn)
NM_003334.4(UBA1):c.167C>T (p.Ser56Phe) rs2147250370
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
NM_003334.4(UBA1):c.1687G>T (p.Asp563Tyr) rs2147273137
NM_003334.4(UBA1):c.1695C>T (p.Phe565=) rs782804501
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) rs1556790852
NM_003334.4(UBA1):c.1741+15G>A
NM_003334.4(UBA1):c.1741+20A>G
NM_003334.4(UBA1):c.1742-19C>T
NM_003334.4(UBA1):c.1742-3C>T
NM_003334.4(UBA1):c.177-13C>T
NM_003334.4(UBA1):c.1800A>G (p.Thr600=) rs1233003223
NM_003334.4(UBA1):c.1817A>G (p.Asn606Ser)
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
NM_003334.4(UBA1):c.1842G>C (p.Leu614=)
NM_003334.4(UBA1):c.1850C>T (p.Ser617Leu)
NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys) rs1556791125
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
NM_003334.4(UBA1):c.1859C>G (p.Ser620Cys)
NM_003334.4(UBA1):c.1878G>T (p.Glu626Asp)
NM_003334.4(UBA1):c.191A>G (p.His64Arg)
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
NM_003334.4(UBA1):c.1921A>G (p.Ile641Val)
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
NM_003334.4(UBA1):c.1939-10C>G
NM_003334.4(UBA1):c.1939-11_1939-3del rs1936835385
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
NM_003334.4(UBA1):c.1939-18T>C
NM_003334.4(UBA1):c.1953G>C (p.Glu651Asp) rs2147286332
NM_003334.4(UBA1):c.195G>C (p.Glu65Asp) rs1936314065
NM_003334.4(UBA1):c.1963C>A (p.Leu655Ile)
NM_003334.4(UBA1):c.1995G>A (p.Gln665=)
NM_003334.4(UBA1):c.2003+10T>C
NM_003334.4(UBA1):c.2003+11C>T
NM_003334.4(UBA1):c.2003+22_2003+23del rs782114592
NM_003334.4(UBA1):c.2003C>T (p.Thr668Ile)
NM_003334.4(UBA1):c.2004-6T>C
NM_003334.4(UBA1):c.2045C>G (p.Thr682Ser)
NM_003334.4(UBA1):c.2059G>A (p.Val687Met) rs1298433365
NM_003334.4(UBA1):c.205C>T (p.Arg69Trp)
NM_003334.4(UBA1):c.2071G>C (p.Val691Leu)
NM_003334.4(UBA1):c.2077C>T (p.Arg693Cys)
NM_003334.4(UBA1):c.2078G>A (p.Arg693His)
NM_003334.4(UBA1):c.2094G>A (p.Gln698=) rs1556792871
NM_003334.4(UBA1):c.2094G>T (p.Gln698His) rs1556792871
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
NM_003334.4(UBA1):c.2106C>G (p.Thr702=) rs1936856451
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
NM_003334.4(UBA1):c.2124C>T (p.Thr708=) rs2147287638
NM_003334.4(UBA1):c.2130C>A (p.Ala710=) rs782185391
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
NM_003334.4(UBA1):c.2147C>T (p.Thr716Ile)
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
NM_003334.4(UBA1):c.2199+17G>C
NM_003334.4(UBA1):c.2199+8C>T
NM_003334.4(UBA1):c.2200-8T>A
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
NM_003334.4(UBA1):c.2250C>T (p.His750=)
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu) rs1936888439
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
NM_003334.4(UBA1):c.2274+10C>T
NM_003334.4(UBA1):c.2274+10_2274+14del
NM_003334.4(UBA1):c.2274+14C>G
NM_003334.4(UBA1):c.2274+14C>T
NM_003334.4(UBA1):c.2275-17G>A
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
NM_003334.4(UBA1):c.2365A>G (p.Thr789Ala)
NM_003334.4(UBA1):c.2388C>A (p.Val796=)
NM_003334.4(UBA1):c.2405A>G (p.Lys802Arg)
NM_003334.4(UBA1):c.2408C>T (p.Ser803Phe)
NM_003334.4(UBA1):c.2413G>A (p.Val805Ile)
NM_003334.4(UBA1):c.241C>T (p.Arg81Trp) rs1168231329
NM_003334.4(UBA1):c.2424T>C (p.His808=) rs1936899956
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
NM_003334.4(UBA1):c.2439G>A (p.Glu813=)
NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp) rs1569216553
NM_003334.4(UBA1):c.2455_2456delinsAT (p.Ala819Ile)
NM_003334.4(UBA1):c.2460T>G (p.Ser820=)
NM_003334.4(UBA1):c.2464+6_2464+9del rs1175155400
NM_003334.4(UBA1):c.2464+7G>T
NM_003334.4(UBA1):c.2465-11T>C
NM_003334.4(UBA1):c.2465-5T>C
NM_003334.4(UBA1):c.246C>T (p.Gly82=) rs782336458
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
NM_003334.4(UBA1):c.2492C>T (p.Ala831Val)
NM_003334.4(UBA1):c.2554-6T>A
NM_003334.4(UBA1):c.2554-6_2554-5del
NM_003334.4(UBA1):c.2595A>T (p.Ala865=) rs139492208
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) rs1556793890
NM_003334.4(UBA1):c.2626C>T (p.Pro876Ser)
NM_003334.4(UBA1):c.2631T>C (p.Ser877=)
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
NM_003334.4(UBA1):c.2646+11T>A rs367788670
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2646+19_2646+20del
NM_003334.4(UBA1):c.2646+3G>A
NM_003334.4(UBA1):c.2647-9_2647-6del rs1173482035
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) rs782087876
NM_003334.4(UBA1):c.2670C>G (p.Ile890Met)
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
NM_003334.4(UBA1):c.2745G>T (p.Gly915=) rs2147297953
NM_003334.4(UBA1):c.2750G>A (p.Arg917Gln)
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) rs782409785
NM_003334.4(UBA1):c.2778C>T (p.Phe926=) rs2147298051
NM_003334.4(UBA1):c.2793G>A (p.Leu931=) rs782340410
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_003334.4(UBA1):c.2838+15C>T
NM_003334.4(UBA1):c.2838+16C>T
NM_003334.4(UBA1):c.2839-13_2839-12del
NM_003334.4(UBA1):c.2839-20C>A
NM_003334.4(UBA1):c.2839-4G>A
NM_003334.4(UBA1):c.2839-4G>T
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
NM_003334.4(UBA1):c.2889G>T (p.Leu963=) rs2147303075
NM_003334.4(UBA1):c.2892G>A (p.Gln964=)
NM_003334.4(UBA1):c.2904G>C (p.Glu968Asp)
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
NM_003334.4(UBA1):c.2968C>T (p.Leu990=)
NM_003334.4(UBA1):c.2987T>A (p.Met996Lys) rs1602662535
NM_003334.4(UBA1):c.3008C>T (p.Pro1003Leu) rs2147304012
NM_003334.4(UBA1):c.3019C>T (p.Leu1007Phe)
NM_003334.4(UBA1):c.3042-10C>T
NM_003334.4(UBA1):c.3042-10del
NM_003334.4(UBA1):c.3074G>A (p.Arg1025Gln)
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
NM_003334.4(UBA1):c.3091G>A (p.Val1031Met)
NM_003334.4(UBA1):c.3091G>T (p.Val1031Leu)
NM_003334.4(UBA1):c.3095G>A (p.Arg1032Gln)
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=) rs2147305266
NM_003334.4(UBA1):c.3136G>A (p.Glu1046Lys)
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=) rs2147305287
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
NM_003334.4(UBA1):c.3153C>T (p.Pro1051=)
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His) rs374092856
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
NM_003334.4(UBA1):c.345+11C>T
NM_003334.4(UBA1):c.345+20T>C
NM_003334.4(UBA1):c.345+20_345+23del
NM_003334.4(UBA1):c.345+29_345+36del
NM_003334.4(UBA1):c.346-16C>T
NM_003334.4(UBA1):c.346-4dup
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)
NM_003334.4(UBA1):c.356G>A (p.Arg119Gln) rs1556786841
NM_003334.4(UBA1):c.367A>G (p.Ile123Val)
NM_003334.4(UBA1):c.369C>T (p.Ile123=) rs200892576
NM_003334.4(UBA1):c.377A>G (p.Asn126Ser) rs781821596
NM_003334.4(UBA1):c.380G>T (p.Arg127Leu)
NM_003334.4(UBA1):c.384C>G (p.Ala128=) rs782618684
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
NM_003334.4(UBA1):c.400C>T (p.Arg134Cys)
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser) rs1159180530
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) rs781887272
NM_003334.4(UBA1):c.432C>T (p.Val144=)
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
NM_003334.4(UBA1):c.454G>C (p.Val152Leu)
NM_003334.4(UBA1):c.455_457del (p.Val152del)
NM_003334.4(UBA1):c.480+9G>A
NM_003334.4(UBA1):c.481-13C>T
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
NM_003334.4(UBA1):c.486G>C (p.Val162=)
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile) rs1936389956
NM_003334.4(UBA1):c.501C>T (p.Thr167=) rs782020007
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
NM_003334.4(UBA1):c.540C>T (p.His180=) rs1602629095
NM_003334.4(UBA1):c.545G>A (p.Arg182His)
NM_003334.4(UBA1):c.54G>T (p.Lys18Asn)
NM_003334.4(UBA1):c.559G>T (p.Val187Leu) rs1556787682
NM_003334.4(UBA1):c.572C>T (p.Thr191Met)
NM_003334.4(UBA1):c.574C>A (p.Arg192=) rs185589110
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
NM_003334.4(UBA1):c.587+21del
NM_003334.4(UBA1):c.587+3G>A rs782499064
NM_003334.4(UBA1):c.588-13C>T
NM_003334.4(UBA1):c.588-20C>T
NM_003334.4(UBA1):c.588-4A>C
NM_003334.4(UBA1):c.588-7T>C rs1428822064
NM_003334.4(UBA1):c.606T>G (p.Phe202Leu) rs1180835791
NM_003334.4(UBA1):c.62C>T (p.Ser21Phe)
NM_003334.4(UBA1):c.632C>G (p.Ser211Cys) rs1936410112
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
NM_003334.4(UBA1):c.64A>G (p.Asn22Asp)
NM_003334.4(UBA1):c.658A>G (p.Met220Val)
NM_003334.4(UBA1):c.667A>G (p.Met223Val)
NM_003334.4(UBA1):c.669G>A (p.Met223Ile)
NM_003334.4(UBA1):c.678+10C>T
NM_003334.4(UBA1):c.678+4A>T
NM_003334.4(UBA1):c.678+6G>A
NM_003334.4(UBA1):c.679-16C>G
NM_003334.4(UBA1):c.683A>C (p.Asn228Thr) rs1936415717
NM_003334.4(UBA1):c.683A>G (p.Asn228Ser) rs1936415717
NM_003334.4(UBA1):c.716G>A (p.Arg239Gln)
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
NM_003334.4(UBA1):c.746C>T (p.Ser249Phe) rs782434472
NM_003334.4(UBA1):c.750T>C (p.Phe250=) rs1936417887
NM_003334.4(UBA1):c.752_753inv (p.Ser251Leu)
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
NM_003334.4(UBA1):c.762G>C (p.Gln254His)
NM_003334.4(UBA1):c.76G>A (p.Ala26Thr)
NM_003334.4(UBA1):c.779A>G (p.Asn260Ser)
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
NM_003334.4(UBA1):c.790C>G (p.Pro264Ala)
NM_003334.4(UBA1):c.793A>G (p.Met265Val) rs1936419804
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
NM_003334.4(UBA1):c.811+15T>C
NM_003334.4(UBA1):c.811+17G>A
NM_003334.4(UBA1):c.811+18G>C rs2147257670
NM_003334.4(UBA1):c.812-14C>G
NM_003334.4(UBA1):c.812-4G>T
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
NM_003334.4(UBA1):c.826A>G (p.Ser276Gly)
NM_003334.4(UBA1):c.829A>G (p.Ile277Val)
NM_003334.4(UBA1):c.838A>T (p.Thr280Ser)
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
NM_003334.4(UBA1):c.840C>T (p.Thr280=) rs1936439884
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
NM_003334.4(UBA1):c.84C>G (p.Ser28=)
NM_003334.4(UBA1):c.84C>T (p.Ser28=) rs782656395
NM_003334.4(UBA1):c.859A>G (p.Ile287Val) rs1556788364
NM_003334.4(UBA1):c.85G>A (p.Val29Met) rs1936300089
NM_003334.4(UBA1):c.874G>A (p.Val292Ile) rs1301756527
NM_003334.4(UBA1):c.875T>C (p.Val292Ala)
NM_003334.4(UBA1):c.8G>A (p.Ser3Asn)
NM_003334.4(UBA1):c.909+11C>T
NM_003334.4(UBA1):c.909+9G>T
NM_003334.4(UBA1):c.910-14T>C rs782428315
NM_003334.4(UBA1):c.910-9C>G rs1602632158
NM_003334.4(UBA1):c.914C>G (p.Ser305Cys)
NM_003334.4(UBA1):c.920T>C (p.Val307Ala)
NM_003334.4(UBA1):c.92C>G (p.Ser31Cys)
NM_003334.4(UBA1):c.977C>G (p.Pro326Arg)
NM_003334.4(UBA1):c.977C>T (p.Pro326Leu) rs782052714
NM_003334.4(UBA1):c.991A>G (p.Ile331Val)

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