ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-IV-A by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)	rs727503946
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)	rs761725425
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)	rs569725936

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