ClinVar Miner

List of variants in gene ITPA reported as pathogenic for ITPA-related encephalopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_033453.4(ITPA):c.264-607_295+1267del
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) rs1407446171
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) rs200086262
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) rs746930990

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