ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by OMIM

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 46
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HGVS dbSNP
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) rs121909519
NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.3(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) rs398122936
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001101362.2(KBTBD13):c.1170G>C (p.Lys390Asn)
NM_001101362.2(KBTBD13):c.1222C>T (p.Arg408Cys) rs387907090
NM_001101362.2(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_003289.3(TPM2):c.121G>A (p.Glu41Lys) rs137853306
NM_003289.3(TPM2):c.142_144AAG[1] (p.Lys49del) rs199476147
NM_003289.3(TPM2):c.14_16AGA[2] (p.Lys7del) rs199476146
NM_003289.3(TPM2):c.349G>A (p.Glu117Lys) rs104894129
NM_003289.3(TPM2):c.412_414GAG[1] (p.Glu139del) rs199476153
NM_003289.3(TPM2):c.440A>C (p.Gln147Pro) rs104894128
NM_003289.3(TPM2):c.606C>G (p.Asn202Lys) rs137853307
NM_006063.3(KLHL41):c.1238C>T (p.Ser413Leu) rs730882260
NM_006063.3(KLHL41):c.1748_1755del (p.Lys583fs) rs730882258
NM_006063.3(KLHL41):c.459delinsACTC (p.Ala154_Arg155insLeu) rs730882257
NM_006063.3(KLHL41):c.575_577AAG[2] (p.Glu194del) rs730882259
NM_006063.3(KLHL41):c.641del (p.Asn214fs) rs730882235
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) rs876661407
NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) rs876661406
NM_152263.4(TPM3):c.855-1G>A rs113605263
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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