ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2I by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674

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