List of variants reported as pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2D by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)	rs28933693	0.00046
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.293G>A (p.Arg98His)	rs137852621	0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)	rs768814872	0.00003
NM_000023.4(SGCA):c.157+1G>A	rs113109898	0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)	rs60407644	0.00001
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)	rs752640127
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.834_837del (p.Thr279fs)
NM_000023.4(SGCA):c.957-1G>T	rs2144502043

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