ClinVar Miner

List of variants studied for myopathy, congenital, with structured cores and z-line abnormalities by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):

Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant
Myopathy, congenital, with structured cores and z-line abnormalities

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)	rs121434525	0.00070
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)	rs142482143	0.00042
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)

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