ClinVar Miner

List of variants studied for Congenital myopathy 25 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020647.4(JPH1):c.1510del (p.Glu504fs)
NM_020647.4(JPH1):c.1738del (p.Leu580fs)
NM_020647.4(JPH1):c.354C>A (p.Tyr118Ter)
NM_020647.4(JPH1):c.373del (p.Asp125fs)

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