List of variants reported as pathogenic by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	rs753873681	0.00001
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His)	rs765926471
NM_001010867.4(IBA57):c.589_590del (p.Arg197fs)	rs2034988017
NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter)	rs1261081427
NM_004614.5(TK2):c.144_145del (p.Lys50fs)	rs1454450104
NM_004614.5(TK2):c.328C>T (p.Gln110Ter)	rs1965109135
NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	rs1686562488
NM_017547.4(FOXRED1):c.352C>T (p.Gln118Ter)	rs1591548857
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)	rs1189650128

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