List of variants reported as likely pathogenic for congenital myopathy by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.12330+2T>C	rs1374971806	0.00001
NM_001267550.2(TTN):c.56648-1G>A	rs769912484	0.00001
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser)	rs2148488364
NM_001164508.2(NEB):c.4299+4A>G	rs781754253
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer)	rs2154516696
NM_001267550.2(TTN):c.56347+1G>A	rs1576251664
NM_005262.3(GFER):c.219del (p.Cys74fs)	rs1597063051
NM_005262.3(GFER):c.259-25_259-24del	rs1597063303

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