ClinVar Miner

List of variants studied for Congenital myopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)

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