ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)	rs749578474	0.00001
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)	rs948490589

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