ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2E

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Total variants: 21
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HGVS dbSNP
NM_000232.4(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.4(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.4(SGCB):c.243+1G>T rs1553940663
NM_000232.4(SGCB):c.243+2T>G rs1553940661
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.4(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.4(SGCB):c.33+1G>A rs1553940957
NM_000232.4(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.452C>G (p.Thr151Arg) rs28936383
NM_000232.4(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.4(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.4(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.4(SGCB):c.621+1G>A
NM_000232.4(SGCB):c.621+1G>T rs1264362642
NM_000232.4(SGCB):c.622-2A>G rs780596734
NM_000232.4(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.4(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.4(SGCB):c.699_702del (p.Phe233fs) rs1057516515
NM_000232.4(SGCB):c.85A>T (p.Arg29Ter) rs747809412

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