ClinVar Miner

List of variants reported as uncertain significance 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: 225
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HGVS dbSNP gnomAD frequency
NM_003334.4(UBA1):c.1049G>A (p.Arg350His) rs5906354 0.00020
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.2842T>G (p.Tyr948Asp) rs781929195 0.00012
NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) rs139130383 0.00010
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) rs148642741 0.00004
NM_003334.4(UBA1):c.1765G>A (p.Val589Ile) rs782106589 0.00004
NM_003334.4(UBA1):c.370G>A (p.Gly124Ser) rs149161653 0.00004
NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) rs781909775 0.00003
NM_003334.4(UBA1):c.1226T>C (p.Val409Ala) rs1556788859 0.00003
NM_003334.4(UBA1):c.2359G>A (p.Val787Met) rs1204889932 0.00003
NM_003334.4(UBA1):c.2843A>G (p.Tyr948Cys) rs1466232811 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.733G>A (p.Gly245Arg) rs781803482 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.1115C>A (p.Ala372Glu) rs782051479 0.00002
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) rs782354395 0.00002
NM_003334.4(UBA1):c.1171G>A (p.Ala391Thr) rs917269296 0.00002
NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) rs1028156593 0.00002
NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) rs1215231057 0.00002
NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) rs1556793806 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.499A>G (p.Thr167Ala) rs781828163 0.00002
NM_003334.4(UBA1):c.575G>A (p.Arg192Gln) rs782068633 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.863G>A (p.Arg288His) rs782554153 0.00002
NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) rs1365209491 0.00002
NM_003334.4(UBA1):c.1014G>C (p.Gln338His) rs1157237217 0.00001
NM_003334.4(UBA1):c.1147A>T (p.Ile383Phe) rs1341394275 0.00001
NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) rs1556788826 0.00001
NM_003334.4(UBA1):c.1629C>G (p.Ile543Met) rs1556790800 0.00001
NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) rs1318594436 0.00001
NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) rs1556793160 0.00001
NM_003334.4(UBA1):c.2329G>A (p.Gly777Arg) rs868922840 0.00001
NM_003334.4(UBA1):c.242G>A (p.Arg81Gln) rs782097752 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.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.2626C>G (p.Pro876Ala) rs782749176 0.00001
NM_003334.4(UBA1):c.2754G>C (p.Gln918His) rs782576505 0.00001
NM_003334.4(UBA1):c.2824G>A (p.Ala942Thr) rs1556794067 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.3127G>A (p.Glu1043Lys) rs782810802 0.00001
NM_003334.4(UBA1):c.34G>T (p.Val12Leu) rs982155788 0.00001
NM_003334.4(UBA1):c.521G>A (p.Arg174Gln) rs1556787651 0.00001
NM_003334.4(UBA1):c.598T>G (p.Cys200Gly) rs200692291 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.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.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.118-11_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.1201A>T (p.Ile401Phe)
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+9G>A
NM_003334.4(UBA1):c.1252A>G (p.Met418Val)
NM_003334.4(UBA1):c.1288G>C (p.Glu430Gln)
NM_003334.4(UBA1):c.1292G>C (p.Cys431Ser) rs1936478450
NM_003334.4(UBA1):c.1313T>G (p.Val438Gly) rs1936479502
NM_003334.4(UBA1):c.1338+4T>C
NM_003334.4(UBA1):c.133G>A (p.Gly45Ser)
NM_003334.4(UBA1):c.1378T>C (p.Ser460Pro)
NM_003334.4(UBA1):c.1383C>A (p.Asp461Glu)
NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) rs782565391
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.1516G>A (p.Asp506Asn) rs2147263751
NM_003334.4(UBA1):c.1523T>C (p.Ile508Thr)
NM_003334.4(UBA1):c.1575G>A (p.Thr525=)
NM_003334.4(UBA1):c.1592C>T (p.Thr531Met)
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.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.1687G>T (p.Asp563Tyr) rs2147273137
NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) rs1556790852
NM_003334.4(UBA1):c.1741+15G>A
NM_003334.4(UBA1):c.1742-3C>T
NM_003334.4(UBA1):c.1817A>G (p.Asn606Ser)
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.1921A>G (p.Ile641Val)
NM_003334.4(UBA1):c.1939-14_1939-13delinsAT
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.2003C>T (p.Thr668Ile)
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>T (p.Gln698His) rs1556792871
NM_003334.4(UBA1):c.2096G>A (p.Arg699Gln)
NM_003334.4(UBA1):c.2119G>A (p.Val707Met)
NM_003334.4(UBA1):c.2147C>T (p.Thr716Ile)
NM_003334.4(UBA1):c.2219C>T (p.Pro740Leu)
NM_003334.4(UBA1):c.2252C>T (p.Pro751Leu) rs1936888439
NM_003334.4(UBA1):c.2273A>G (p.Asn758Ser)
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.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.2492C>T (p.Ala831Val)
NM_003334.4(UBA1):c.2621A>C (p.Asp874Ala)
NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) rs1556793890
NM_003334.4(UBA1):c.2638C>T (p.Arg880Trp)
NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) rs782087876
NM_003334.4(UBA1):c.2670C>G (p.Ile890Met)
NM_003334.4(UBA1):c.2701G>A (p.Val901Met)
NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) rs782409785
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_003334.4(UBA1):c.2904G>C (p.Glu968Asp)
NM_003334.4(UBA1):c.2942C>A (p.Thr981Lys)
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.3074G>A (p.Arg1025Gln)
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.3136G>A (p.Glu1046Lys)
NM_003334.4(UBA1):c.3173G>A (p.Arg1058His) rs374092856
NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)
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.377A>G (p.Asn126Ser) rs781821596
NM_003334.4(UBA1):c.380G>T (p.Arg127Leu)
NM_003334.4(UBA1):c.400C>T (p.Arg134Cys)
NM_003334.4(UBA1):c.406G>A (p.Ala136Thr)
NM_003334.4(UBA1):c.406G>T (p.Ala136Ser) rs1159180530
NM_003334.4(UBA1):c.448C>T (p.Pro150Ser)
NM_003334.4(UBA1):c.454G>C (p.Val152Leu)
NM_003334.4(UBA1):c.455_457del (p.Val152del)
NM_003334.4(UBA1):c.484G>T (p.Val162Leu)
NM_003334.4(UBA1):c.500C>T (p.Thr167Ile) rs1936389956
NM_003334.4(UBA1):c.503C>T (p.Pro168Leu)
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.587+3G>A rs782499064
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.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+4A>T
NM_003334.4(UBA1):c.678+6G>A
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.746C>T (p.Ser249Phe) rs782434472
NM_003334.4(UBA1):c.752_753inv (p.Ser251Leu)
NM_003334.4(UBA1):c.757G>A (p.Val253Ile)
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.790C>G (p.Pro264Ala)
NM_003334.4(UBA1):c.793A>G (p.Met265Val) rs1936419804
NM_003334.4(UBA1):c.804A>T (p.Lys268Asn) rs781996319
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.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.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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