ClinVar Miner

List of variants reported for Failure to thrive; Sensory neuropathy; Generalized hypotonia; Broad-based gait; Sensory ataxic neuropathy; Decreased body weight; Impaired distal proprioception; Sensory ataxia by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_030973.4(MED25):c.1778_1779del (p.Gln593fs) rs763039409 0.00001
NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys) rs1569159579

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