ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Neuberg Centre For Genomic Medicine, NCGM

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg)	rs544414698	0.00001
NM_000231.3(SGCG):c.284T>G (p.Ile95Arg)
NM_000231.3(SGCG):c.284_287del (p.Ile95fs)
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)

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