ClinVar Miner

List of variants reported for Congenital myopathy 4A, autosomal dominant by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_020451.3(SELENON):c.1446del (p.Asn483fs) rs2124454648
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.843C>G (p.Ile281Met) rs2524984226

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