List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.34786+3A>G	rs1417271874	0.00004
NM_001267550.2(TTN):c.56648-1G>A	rs769912484	0.00001
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.24505+5G>T
NM_001267550.2(TTN):c.40786+1G>T
NM_001267550.2(TTN):c.48161-1G>A
NM_001267550.2(TTN):c.51436+1del
NM_001267550.2(TTN):c.53003-36_53045del
NM_001267550.2(TTN):c.53881+1G>A
NM_001267550.2(TTN):c.56347+1G>A	rs1576251664
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.60220+1G>A
NM_001267550.2(TTN):c.64396+4A>G	rs2049020856
NM_001267550.2(TTN):c.6509-1G>A
NM_001267550.2(TTN):c.67636+1G>A
NM_001267550.2(TTN):c.69412+5G>A
NM_001267550.2(TTN):c.86822-1G>C
NM_001267550.2(TTN):c.87119-1G>C
NM_001267550.2(TTN):c.87706+1G>C

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