ClinVar Miner

List of variants studied for Nemaline myopathy 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
Download table as spreadsheet
HGVS dbSNP
NM_001101362.2(KBTBD13):c.1010G>A (p.Arg337Gln) rs771413223
NM_001101362.2(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101362.2(KBTBD13):c.1042del (p.Ala348fs) rs760102500
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1112G>C (p.Cys371Ser)
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.115G>C (p.Gly39Arg) rs201420126
NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)
NM_001101362.2(KBTBD13):c.117C>T (p.Gly39=) rs367684457
NM_001101362.2(KBTBD13):c.1184C>T (p.Thr395Met)
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.2(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402
NM_001101362.2(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.2(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168
NM_001101362.2(KBTBD13):c.1294C>T (p.Arg432Trp)
NM_001101362.2(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.2(KBTBD13):c.1341T>C (p.Ala447=) rs1298809117
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.1372C>T (p.Leu458=) rs959915743
NM_001101362.2(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.2(KBTBD13):c.163G>A (p.Ala55Thr) rs551460635
NM_001101362.2(KBTBD13):c.164C>T (p.Ala55Val)
NM_001101362.2(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901
NM_001101362.2(KBTBD13):c.168A>C (p.Gly56=) rs1339755233
NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.2(KBTBD13):c.171T>C (p.Gly57=) rs369379657
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.189G>A (p.Gln63=) rs777062916
NM_001101362.2(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554
NM_001101362.2(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253
NM_001101362.2(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.2(KBTBD13):c.214C>T (p.Leu72=) rs550537101
NM_001101362.2(KBTBD13):c.217G>A (p.Ala73Thr)
NM_001101362.2(KBTBD13):c.224A>C (p.Glu75Ala)
NM_001101362.2(KBTBD13):c.229_271dup (p.Pro91fs)
NM_001101362.2(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
NM_001101362.2(KBTBD13):c.247G>C (p.Glu83Gln) rs781438362
NM_001101362.2(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767
NM_001101362.2(KBTBD13):c.261C>T (p.Phe87=) rs770172865
NM_001101362.2(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454
NM_001101362.2(KBTBD13):c.272C>A (p.Pro91Gln)
NM_001101362.2(KBTBD13):c.276G>C (p.Ala92=) rs566529505
NM_001101362.2(KBTBD13):c.288T>G (p.Phe96Leu) rs759474251
NM_001101362.2(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093
NM_001101362.2(KBTBD13):c.2T>G (p.Met1Arg) rs374196960
NM_001101362.2(KBTBD13):c.308C>T (p.Ser103Leu) rs1235549563
NM_001101362.2(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902
NM_001101362.2(KBTBD13):c.333C>G (p.Asp111Glu) rs188146580
NM_001101362.2(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.2(KBTBD13):c.359del (p.Asp120fs) rs903604256
NM_001101362.2(KBTBD13):c.361G>A (p.Val121Met) rs201466173
NM_001101362.2(KBTBD13):c.361G>C (p.Val121Leu) rs201466173
NM_001101362.2(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.2(KBTBD13):c.375C>G (p.Ala125=) rs540939027
NM_001101362.2(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.2(KBTBD13):c.393C>A (p.Asp131Glu) rs544721592
NM_001101362.2(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171
NM_001101362.2(KBTBD13):c.411G>A (p.Ala137=) rs944865368
NM_001101362.2(KBTBD13):c.43G>A (p.Gly15Ser)
NM_001101362.2(KBTBD13):c.470A>T (p.Tyr157Phe)
NM_001101362.2(KBTBD13):c.471C>T (p.Tyr157=) rs550724858
NM_001101362.2(KBTBD13):c.477C>G (p.Ala159=) rs1052175397
NM_001101362.2(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.2(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647
NM_001101362.2(KBTBD13):c.521C>G (p.Ser174Trp)
NM_001101362.2(KBTBD13):c.521C>T (p.Ser174Leu)
NM_001101362.2(KBTBD13):c.542A>C (p.Asp181Ala)
NM_001101362.2(KBTBD13):c.543C>G (p.Asp181Glu)
NM_001101362.2(KBTBD13):c.557C>T (p.Ala186Val)
NM_001101362.2(KBTBD13):c.576G>C (p.Ala192=) rs1490959556
NM_001101362.2(KBTBD13):c.607G>C (p.Gly203Arg)
NM_001101362.2(KBTBD13):c.607_615del (p.Gly203_Ala205del)
NM_001101362.2(KBTBD13):c.646G>A (p.Gly216Ser)
NM_001101362.2(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136
NM_001101362.2(KBTBD13):c.670G>A (p.Val224Met)
NM_001101362.2(KBTBD13):c.702C>G (p.Asp234Glu)
NM_001101362.2(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.2(KBTBD13):c.729C>G (p.Ser243Arg)
NM_001101362.2(KBTBD13):c.739C>A (p.Pro247Thr)
NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.2(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001101362.2(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.2(KBTBD13):c.769G>C (p.Asp257His) rs568675071
NM_001101362.2(KBTBD13):c.775C>T (p.Arg259Cys)
NM_001101362.2(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376
NM_001101362.2(KBTBD13):c.815T>A (p.Ile272Asn) rs558291810
NM_001101362.2(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.2(KBTBD13):c.881C>T (p.Pro294Leu)
NM_001101362.2(KBTBD13):c.89G>A (p.Gly30Asp) rs138484272
NM_001101362.2(KBTBD13):c.900C>T (p.Cys300=) rs778682102
NM_001101362.2(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.2(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.2(KBTBD13):c.947A>C (p.Asp316Ala)
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101362.2(KBTBD13):c.958G>T (p.Val320Leu) rs367648853
NM_001101362.2(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.2(KBTBD13):c.981C>G (p.Thr327=) rs184130258
NM_001101362.2(KBTBD13):c.985G>T (p.Ala329Ser)
NM_001101362.2(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.2(KBTBD13):c.98G>C (p.Arg33Pro)
NM_001101362.2(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021
Single allele

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.