List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp)	rs200865845	0.00011
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	rs777327250	0.00001
NM_001267550.2(TTN):c.32471-1G>A	rs371725574	0.00001
NM_013382.7(POMT2):c.311A>T (p.Asp104Val)	rs1891449262	0.00001
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)	rs2068606445
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)	rs746844753
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro)	rs746641607
NM_001267550.2(TTN):c.28174+1G>T	rs1577824925
NM_001267550.2(TTN):c.28462+1G>T	rs2076520917
NM_004370.6(COL12A1):c.756dup (p.Ser253fs)	rs1582208315
NM_021942.6(TRAPPC11):c.464C>T (p.Ser155Leu)	rs868721699
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val)	rs28937903
NM_031229.4(RBCK1):c.461-2A>G	rs2016220601
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387

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