ClinVar Miner

List of variants in gene KBTBD13 studied for Nemaline myopathy 6

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Total variants: 77
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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.1112G>C (p.Cys371Ser)
NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)
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.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.2(KBTBD13):c.164C>T (p.Ala55Val)
NM_001101362.2(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901
NM_001101362.2(KBTBD13):c.170del (p.Gly57fs) rs1555407559
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.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.242C>T (p.Ala81Val) rs2919358
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767
NM_001101362.2(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454
NM_001101362.2(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367
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.331G>A (p.Asp111Asn) rs567309902
NM_001101362.2(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.2(KBTBD13):c.359del (p.Asp120fs) rs903604256
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.43G>A (p.Gly15Ser) rs779819069
NM_001101362.2(KBTBD13):c.470A>T (p.Tyr157Phe)
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) rs760224608
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) rs944113571
NM_001101362.2(KBTBD13):c.607_615del (p.Gly203_Ala205del)
NM_001101362.2(KBTBD13):c.646G>A (p.Gly216Ser) rs1052506752
NM_001101362.2(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136
NM_001101362.2(KBTBD13):c.670G>A (p.Val224Met) rs377035059
NM_001101362.2(KBTBD13):c.702C>G (p.Asp234Glu) rs761192296
NM_001101362.2(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.2(KBTBD13):c.729C>G (p.Ser243Arg) rs767990371
NM_001101362.2(KBTBD13):c.739C>A (p.Pro247Thr)
NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.2(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.2(KBTBD13):c.775C>T (p.Arg259Cys) rs780964425
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.798A>G (p.Glu266=) rs2919359
NM_001101362.2(KBTBD13):c.810G>C (p.Thr270=) rs912566376
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.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.977G>C (p.Arg326Pro) rs779729198
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) rs200548009
NM_001101362.2(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021

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