List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter)	rs547818652
NM_000426.4(LAMA2):c.326G>A (p.Trp109Ter)
NM_001231.5(CASQ1):c.984+1G>A
NM_001267550.2(TTN):c.48160+1G>A	rs779498825
NM_001267550.2(TTN):c.48571_48573delinsT (p.Ile16191fs)
NM_003283.6(TNNT1):c.272_281del (p.Lys91fs)
NM_004006.3(DMD):c.10554-1G>A
NM_004006.3(DMD):c.1149+1G>T
NM_005476.7(GNE):c.1868del (p.Gly623fs)
NM_017739.4(POMGNT1):c.1686T>A (p.Cys562Ter)
NM_058246.4(DNAJB6):c.236G>A (p.Gly79Asp)	rs575938861
NM_182914.3(SYNE2):c.990_990+4del

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