ClinVar Miner

List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2E by Natera, Inc.

Included ClinVar conditions (1):

Autosomal recessive limb-girdle muscular dystrophy type 2E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000232.5(SGCB):c.768C>T (p.Ile256=)	rs149121189	0.00039
NM_000232.5(SGCB):c.495C>T (p.Asp165=)	rs142801720	0.00025
NM_000232.5(SGCB):c.498C>T (p.Ile166=)	rs748602445	0.00002

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