ClinVar Miner

List of variants reported as pathogenic for Myopathy, autophagic vacuolar, infantile-onset by Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002137.4(HNRNPA2B1):c.996_997dup (p.Gly333fs)
NM_014365.3(HSPB8):c.508_509del (p.Gln170fs)

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