ClinVar Miner

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

Included ClinVar conditions (1):

Autosomal recessive limb-girdle muscular dystrophy type 2C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)	rs148404730	0.00027
NM_000231.3(SGCG):c.253_254del (p.Glu85fs)
NM_000231.3(SGCG):c.260T>A (p.Leu87Ter)
NM_000231.3(SGCG):c.302C>A (p.Ser101Ter)

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