ClinVar Miner

List of variants in gene combination IDS, LOC106050102 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly) rs2089378583
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) rs2520785646
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>G (p.His342Arg)
NM_000202.8(IDS):c.1037C>A (p.Ala346Asp)
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg) rs2089342939
NM_000202.8(IDS):c.454A>C (p.Ser152Arg) rs2124055504
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.671G>C (p.Gly224Ala) rs2520862765
NM_000202.8(IDS):c.796C>T (p.Pro266Ser)
NM_000202.8(IDS):c.801G>T (p.Trp267Cys) rs2124041510
NM_000202.8(IDS):c.817C>T (p.Arg273Trp) rs1602740899
NM_000202.8(IDS):c.823G>A (p.Asp275Asn) rs1803781
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr) rs1803781
NM_000202.8(IDS):c.880-2_880-1delinsCC rs2520813885
NM_000202.8(IDS):c.913T>C (p.Ser305Pro) rs2124020632

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