List of variants in gene combination IDS, LOC106050102 reported as likely pathogenic by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)	rs2089378583
NM_000202.8(IDS):c.1122C>T (p.Gly374=)	rs113993948
NM_000202.8(IDS):c.455G>A (p.Ser152Asn)	rs193302914
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)	rs2089450305
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)	rs2124020665
NM_000202.8(IDS):c.923A>G (p.Asp308Gly)	rs2124020552
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del)	rs2124020031

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