ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp) rs1557338581
NM_000202.8(IDS):c.1007-133A>G rs2124007227
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys) rs2124006380
NM_000202.8(IDS):c.1024C>T (p.His342Tyr) rs2089343220
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer) rs2124006012
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg) rs1602730439
NM_000202.8(IDS):c.1170del (p.Met391fs)
NM_000202.8(IDS):c.419-1G>A rs1557339927
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.455G>A (p.Ser152Asn) rs193302914
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs) rs2089451657
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.631A>T (p.Lys211Ter)
NM_000202.8(IDS):c.636del (p.Met212fs)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
NM_000202.8(IDS):c.671_672del (p.Gly224fs)
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg) rs2089450305
NM_000202.8(IDS):c.695dup (p.Arg233fs)
NM_000202.8(IDS):c.696_697del (p.Phe232fs)
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.737del (p.Asn246fs) rs2124042006
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs)
NM_000202.8(IDS):c.777dup (p.Pro260fs)
NM_000202.8(IDS):c.794A>T (p.Asn265Ile)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
NM_000202.8(IDS):c.880-2_880-1delinsCC
NM_000202.8(IDS):c.908C>T (p.Ser303Phe) rs2124020665
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632
NM_000202.8(IDS):c.922G>C (p.Asp308His) rs2124020573
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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