ClinVar Miner

List of variants reported as not provided for Congenital myopathy 4B, autosomal recessive by GeneReviews

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Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter) rs80358248

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