ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as pathogenic by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1006+1G>A rs869025308
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) rs375836575
NM_000202.8(IDS):c.419-2A>G rs2089476206
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000202.8(IDS):c.474del (p.His159fs) rs2124055341
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.601_602del (p.Ser201fs) rs2124046861
NM_000202.8(IDS):c.683C>T (p.Pro228Leu) rs113993945
NM_000202.8(IDS):c.709-1G>A rs2089438403
NM_000202.8(IDS):c.886dup (p.Ile296fs) rs2124020896
NM_000202.8(IDS):c.895dup (p.Ser299fs) rs2124020775
NM_000202.8(IDS):c.955del (p.Asp319fs) rs2124020278
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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