ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2E by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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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.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
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.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)_(52904425_?)del
NC_000004.11:g.(?_52894124)_(52896039_?)del
NC_000004.11:g.(?_52894876)_(52895107_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)del
NC_000004.12:g.(?_52023947)_(52038269_?)del
NC_000004.12:g.(?_52033421)_(52033650_?)del
NC_000004.12:g.(?_52038207)_(52038279_?)del
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter) rs1737305761
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.255dup (p.Ile86fs) rs2109372084
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter) rs2109372060
NM_000232.5(SGCB):c.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.373dup (p.Ser125fs) rs2109371877
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.37del (p.Ser13fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.433del (p.Val145fs)
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
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.558_568del (p.His187fs)
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.579dup (p.Gly194fs) rs2109370922
NM_000232.5(SGCB):c.583dup (p.Val195fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.621+1G>A rs1264362642
NM_000232.5(SGCB):c.622-1G>T
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
NM_000232.5(SGCB):c.735_736del (p.Asn246fs) rs2109369924
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.85dup (p.Arg29fs) rs2109376054

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