ClinVar Miner

List of variants in gene SGCB reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2E

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
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.355A>T (p.Ile119Phe) rs762412447 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.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NC_000004.11:g.(?_52890123)_(52890346_?)del
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.113_120delinsATAAAGAGCACA (p.Ser38fs)
NM_000232.5(SGCB):c.151dup (p.Arg51fs)
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.216_219del (p.Phe73fs) rs1057516360
NM_000232.5(SGCB):c.232del (p.Ile78fs)
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.275T>C (p.Ile92Thr)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.334C>T (p.Gln112Ter) rs1553940262
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.374del (p.Ser125fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.404T>A (p.Leu135Ter)
NM_000232.5(SGCB):c.430-2A>G
NM_000232.5(SGCB):c.491_494delinsTTG (p.Ser164fs)
NM_000232.5(SGCB):c.532dup (p.Ile178fs)
NM_000232.5(SGCB):c.539del (p.Phe180fs) rs1737176330
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.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.573_574delinsCAA (p.Leu191fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.610T>C (p.Ser204Pro) rs886044156
NM_000232.5(SGCB):c.621+2T>C
NM_000232.5(SGCB):c.630C>A (p.Ser210Arg)
NM_000232.5(SGCB):c.630C>G (p.Ser210Arg)
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.703dup (p.Met235fs)
NM_000232.5(SGCB):c.734dup (p.Gly245_Asn246insTer)
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.919_921del (p.Cys307del)

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