List of variants studied for congenital myopathy by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln)	rs757795544	0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)	rs375159973	0.00002
NM_001267550.2(TTN):c.86009T>C (p.Ile28670Thr)	rs1703105655	0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	rs762593265	0.00001
NC_012920.1(MT-ND5):m.12923G>A
NC_012920.1:m.3243A>G	rs199474657
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)	rs1281729528
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)	rs2148493317
NM_001267550.2(TTN):c.20449del (p.Ser6817fs)	rs2079254006
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)	rs752101551
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)	rs2154358498

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