ClinVar Miner

List of variants in gene FKRP studied for Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP
NM_024301.5(FKRP):c.192C>T (p.Pro64=)	rs111754012
NM_024301.5(FKRP):c.585C>T (p.Asp195=)	rs75079578
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900
NM_024301.5(FKRP):c.968G>A (p.Arg323His)	rs1349031936

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