List of variants reported as uncertain significance for congenital myopathy by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)	rs117725825	0.00233
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)	rs72677243	0.00094
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)	rs747082651	0.00002
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)	rs776520014	0.00001
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)	rs2145723708
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	rs121912938
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys)	rs2149467046
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)	rs757195322
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)

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