List of variants reported as benign for Inosine triphosphatase deficiency

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033453.4(ITPA):c.138G>A (p.Gln46=)	rs8362	0.34252
NM_033453.4(ITPA):c.561G>A (p.Glu187=)	rs9101	0.31247
NM_033453.4(ITPA):c.124+21A>C	rs7270101	0.09874
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	rs1127354	0.06104
NM_033453.4(ITPA):c.264-12T>G	rs8114386	0.01331
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly)	rs34982958	0.00620
NM_033453.4(ITPA):c.315C>T (p.Ala105=)	rs114819623	0.00171
NM_033453.4(ITPA):c.233A>G (p.Asn78Ser)	rs150904363	0.00089
NM_033453.4(ITPA):c.291T>G (p.Pro97=)	rs145329644	0.00084
NM_033453.4(ITPA):c.540G>A (p.Arg180=)	rs202174987	0.00039
NM_033453.4(ITPA):c.539G>A (p.Arg180Gln)	rs567048681	0.00006
NM_033453.4(ITPA):c.*123G>A	rs13830
NM_033453.4(ITPA):c.264-11_264-8del	rs531698626
NM_033453.4(ITPA):c.489-5del	rs2122460199

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