List of variants reported as likely pathogenic for congenital myopathy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)	rs139260335	0.00057
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G	rs781795144
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	rs193922766
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)	rs1600649879
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)	rs1590054876
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)	rs398123563
NM_001256545.2(MEGF10):c.2096G>C (p.Cys699Ser)
NM_001267550.2(TTN):c.66906_66907del (p.Asp22304fs)
NM_001267550.2(TTN):c.77013T>A (p.Tyr25671Ter)
NM_001848.3(COL6A1):c.1056+1del	rs1556425853
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)	rs1596358408
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	rs1290567099
NM_152393.4(KLHL40):c.176G>C (p.Arg59Pro)	rs778303947

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