ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2E by Myriad Genetics, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.55_56insGAGACAGT (p.Lys19fs)
NM_000232.5(SGCB):c.75_76insTCGT (p.Ala26fs)

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