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

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Total variants: 28

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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.739G>A (p.Val247Met)	rs143570936	0.00019
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)	rs138945081	0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)	rs137852623	0.00013
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
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.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His)	rs767928766	0.00002
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.220C>T (p.Arg74Trp)	rs757888349	0.00001
NM_000023.4(SGCA):c.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)	rs387907298	0.00001
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter)	rs1598265248
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)	rs752640127
NM_000023.4(SGCA):c.385+1G>T
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)	rs200166783
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.86dup (p.His29fs)	rs1904986620
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000023.4(SGCA):c.957-1G>T	rs2144502043
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)	rs796065318

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