ClinVar Miner

List of variants in gene TPM3 reported as pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
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.758C>A (p.Thr253Lys) rs1553248515
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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