ClinVar Miner

List of variants in gene TPM3 reported as pathogenic for Congenital myopathy 4B, autosomal recessive

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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