ClinVar Miner

List of variants in gene ANO5 reported as uncertain significance for Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_213599.3(ANO5):c.424A>T (p.Thr142Ser)	rs757367942	0.00001
NM_213599.3(ANO5):c.1685T>C (p.Leu562Pro)	rs772361544

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