ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
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.1024C>T (p.His342Tyr)
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
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.419-1G>A rs1557339927
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr) rs1602745838
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000202.8(IDS):c.708G>A (p.Lys236=) rs1602742620
NM_000202.8(IDS):c.737del (p.Asn246fs)
NM_000202.8(IDS):c.811A>T (p.Arg271Trp) rs1602740912
NM_000202.8(IDS):c.922G>C (p.Asp308His)

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