ClinVar Miner

List of variants reported for Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome by Genome Medicine, Institute for Basic Research in Developmental Disabilities

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006345.4(SLC30A9):c.40del (p.Ser14fs) rs767078182 0.00012
NM_006345.4(SLC30A9):c.86_87dup (p.Cys30fs) rs752245649 0.00003

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