ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2P by OMIM

Included ClinVar conditions (2):

Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9

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_004393.6(DAG1):c.331G>A (p.Asp111Asn)	rs117209107	0.00072
NM_004393.6(DAG1):c.220G>A (p.Val74Ile)	rs189360006	0.00004
NM_004393.6(DAG1):c.575C>T (p.Thr192Met)	rs193922955

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