ClinVar Miner

List of variants studied for Spinal muscular atrophy-progressive myoclonic epilepsy syndrome by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_177924.5(ASAH1):c.456A>C (p.Lys152Asn) rs200455852 0.00004
NC_000008.11:g.(?_18051554)_(18107050_?)del
NM_177924.5(ASAH1):c.850G>T (p.Gly284Ter) rs794729663

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