List of variants reported as pathogenic for hereditary skeletal muscle disorder by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001077365.2(POMT1):c.1093_1094insGGAGCACGGTGTGGAACGTGGG (p.Val365fs)	rs2131707009
NM_001077365.2(POMT1):c.1417G>C (p.Gly473Arg)	rs376882399
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	rs1565977796

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