List of variants studied for congenital myopathy by Wellcome Centre for Mitochondrial Research, Newcastle University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001927.4(DES):c.638C>T (p.Ala213Val)	rs41272699	0.01015
NM_001927.4(DES):c.735+20C>T	rs151226355	0.00694
NM_001927.4(DES):c.46C>T (p.Arg16Cys)	rs60798368	0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu)	rs775180716	0.00001
NC_012920.1(MT-TA):m.5610G>A	rs786200951
NC_012920.1(MT-TA):m.5631G>A	rs786200950
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)	rs121908334
NM_001927.4(DES):c.1069G>C (p.Ala357Pro)	rs58898021
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	rs267607485
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	rs121908458

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