List of variants in gene ITPA reported as pathogenic for developmental and epileptic encephalopathy, 35

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_033453.4(ITPA):c.264-1G>A	rs781254071	0.00001
NM_033453.4(ITPA):c.452G>A (p.Trp151Ter)	rs200086262	0.00001
NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)	rs746930990	0.00001
NM_033453.4(ITPA):c.124+2T>C	rs1408254396
NM_033453.4(ITPA):c.142G>T (p.Glu48Ter)
NM_033453.4(ITPA):c.263+583_295+1203del
NM_033453.4(ITPA):c.264-607_295+1267del
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	rs1407446171

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