ClinVar Miner

List of variants studied for Pontocerebellar hypoplasia type 6 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg)	rs758894784	0.00001
NM_020320.5(RARS2):c.29C>T (p.Ala10Val)	rs1776518694

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