List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-II by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 15

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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.117TCT[1] (p.Leu41del)	rs2089505317
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)	rs2089504816
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu)	rs2123994360
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)	rs782430567
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)	rs2089303696
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)	rs193302909
NM_000202.8(IDS):c.212G>T (p.Ser71Ile)	rs113993954
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)	rs2089497300
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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