ClinVar Miner

List of variants in gene IDS reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu) rs1602725808
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.418+34G>T rs1463289439

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