ClinVar Miner

List of variants reported as pathogenic for Myofibrillar myopathy 5 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001458.5(FLNC):c.2789_2800del (p.Val930_Thr933del)	rs1562995872
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter)	rs1585173340
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)	rs121909518

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