ClinVar Miner

List of variants reported as pathogenic for Pseudo-Hurler polydystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)	rs281865026	0.00001
NC_000012.11:g.(102155542_102157979)_(102190541_102224336)del
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)	rs281864999

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