List of variants reported as pathogenic for Congenital myopathy 4A, autosomal dominant by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)	rs80358247
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)	rs121964853
NM_152263.4(TPM3):c.445C>A (p.Leu149Ile)
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.654AGA[1] (p.Glu219del)	rs876661407
NM_152263.4(TPM3):c.670GAA[1] (p.Glu225del)	rs876661406
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)	rs1661445206

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