ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2E by Counsyl

Included ClinVar conditions (1):
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.*18C>G rs191486389 0.00016
NM_000232.5(SGCB):c.429+24G>T rs367761233 0.00004
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
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.85A>T (p.Arg29Ter) rs747809412 0.00001
NM_000232.5(SGCB):c.-15_8del (p.Met1fs) rs1057517205
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) rs1553940680
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.243+3_243+6del rs1553940660
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
NM_000232.5(SGCB):c.857del (p.Lys286fs) rs1553939681
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428

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