List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2D by Genome-Nilou Lab

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00014
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.518T>C (p.Leu173Pro)	rs143962150	0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.748-2A>T	rs1412537279	0.00001
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)	rs1555568335
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs)	rs2144493097
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000023.4(SGCA):c.956+2_956+19del	rs1555569342

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