ClinVar Miner

List of variants reported as uncertain significance for Spongy degeneration of central nervous system by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 3

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HGVS	dbSNP
NM_000049.3(ASPA):c.432G>A (p.Lys144=)	rs754087904
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000049.4(ASPA):c.634+1G>T	rs753871454

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