ClinVar Miner

List of variants in gene OTC reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000531.6(OTC):c.*105C>T rs1036076773
NM_000531.6(OTC):c.*276A>G rs1016109235
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452

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