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

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
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.313-2A>G	rs1057516650	0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)	rs372210292	0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs)	rs753650776	0.00001
NM_000023.4(SGCA):c.580G>T (p.Glu194Ter)	rs1057516664	0.00001
NM_000023.4(SGCA):c.748-2A>T	rs1412537279	0.00001
NM_000023.2(SGCA):c.586delG	rs1220674950
NM_000023.4(SGCA):c.-1_9del (p.Met1fs)	rs1057517107
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)	rs763372958
NM_000023.4(SGCA):c.158-2A>G	rs1057516300
NM_000023.4(SGCA):c.220del (p.Arg74fs)	rs1555568325
NM_000023.4(SGCA):c.290A>G (p.Asp97Gly)	rs1555568396
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)	rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)	rs886043221
NM_000023.4(SGCA):c.464del (p.Ser155fs)	rs1555568775
NM_000023.4(SGCA):c.480_481del (p.Leu161fs)	rs1057517142
NM_000023.4(SGCA):c.488dup (p.Leu164fs)	rs763986788
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter)	rs1057516242
NM_000023.4(SGCA):c.559del (p.Leu187fs)	rs1057516888
NM_000023.4(SGCA):c.584+1del	rs1555568876
NM_000023.4(SGCA):c.585-2A>T	rs1555568965
NM_000023.4(SGCA):c.754_755del (p.Lys252fs)	rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs)	rs1057516548
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs)	rs1057516729
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro)	rs903823830
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter)	rs1555569339
NM_000023.4(SGCA):c.956+2_956+19del	rs1555569342

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