ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000001.10:g.(?_154163642)_(154164514_?)del
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
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.567-4A>C
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
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.857A>C (p.Ter286Ser) rs199474720

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