List of variants reported as pathogenic for skeletal muscle disorder by Genome-Nilou Lab

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.157+1G>A	rs113109898	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs)	rs886041387	0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	rs387907298	0.00001
NM_000023.4(SGCA):c.585-1G>A	rs1342189589	0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)	rs121909295	0.00001
NM_000023.4(SGCA):c.168del (p.Ala57fs)	rs1555568264
NM_000023.4(SGCA):c.203del (p.Gly68fs)	rs1567739228
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)	rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)	rs752640127
NM_000023.4(SGCA):c.391del (p.Leu131fs)	rs144356125
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)	rs1567741398
NM_000023.4(SGCA):c.747+1G>A	rs886043392
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs)	rs1905254738
NM_000070.3(CAPN3):c.801+1G>A	rs1459288402
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)	rs778760498
NM_004006.3(DMD):c.10367del (p.Asn3456fs)	rs1556028034
NM_004006.3(DMD):c.3630del (p.Glu1211fs)	rs2098315232
NM_024301.5(FKRP):c.948del (p.Cys317fs)	rs748798133

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