ClinVar Miner

List of variants in gene IDS reported as pathogenic by OMIM

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946 0.00001
NM_000202.5(IDS):c.[1464G>T,1466G>C]
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu) rs113993946
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) rs199422228
NM_000202.8(IDS):c.349_351del (p.Ser117del) rs483352905
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861

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