List of variants reported as pathogenic for congenital myopathy by Undiagnosed Diseases Network, NIH

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
NM_001267550.2(TTN):c.39974-11T>G	rs758597536	0.00006
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	rs781565158	0.00002
NC_012920.1(MT-TK):m.8344A>G	rs118192098
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000183.3(HADHB):c.1059del (p.Gly354fs)	rs796051974
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter)	rs543860009
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)	rs727504535
NM_001848.3(COL6A1):c.930+189C>T	rs1556425596
NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	rs1553603732

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