ClinVar Miner

List of variants in gene TPM3 studied for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NC_000001.10:g.(?_154163642)_(154164514_?)del
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
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.567-4A>C
NM_152263.4(TPM3):c.654_656AGA[1] (p.Glu219del) rs876661407
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
NM_152263.4(TPM3):c.670_672GAA[1] (p.Glu225del) rs876661406
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920
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.92A>C (p.Lys31Thr) rs62000429
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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