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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.85A>T (p.Arg29Ter)	rs747809412	0.00003
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)	rs555514820	0.00002
NM_000232.5(SGCB):c.621+1G>T	rs1264362642	0.00001
NM_000232.5(SGCB):c.622-2A>G	rs780596734	0.00001
NM_000232.5(SGCB):c.-15_8del (p.Met1fs)	rs1057517205
NM_000232.5(SGCB):c.216_219del (p.Phe73fs)	rs1057516360
NM_000232.5(SGCB):c.243+1G>T	rs1553940663
NM_000232.5(SGCB):c.243+2T>G	rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)	rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs)	rs1057517064
NM_000232.5(SGCB):c.33+1G>A	rs1553940957
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter)	rs1553940262
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer)	rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)	rs104893868
NM_000232.5(SGCB):c.595_598del (p.Asn199fs)	rs762114570
NM_000232.5(SGCB):c.650del (p.Asn217fs)	rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)	rs775458201
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)	rs1057516515

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