ClinVar Miner

List of variants reported as benign for Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804

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