ClinVar Miner

List of variants studied for Hurler-Scheie syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (3):

Mucopolysaccharidosis, MPS-I-H/S
Mucopolysaccharidosis, MPS-I-S
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	rs121965026
NM_000203.5(IDUA):c.159-9T>A
NM_000203.5(IDUA):c.792G>A (p.Lys264=)

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