ClinVar Miner

List of variants in gene ITPA, LOC130065322 studied for Inosine triphosphatase deficiency

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_033453.4(ITPA):c.397A>G (p.Arg133Gly) rs140777194 0.00047
NM_033453.4(ITPA):c.383C>T (p.Pro128Leu) rs780479868 0.00003
NM_033453.4(ITPA):c.403C>T (p.Arg135Trp) rs749416835 0.00002
NM_033453.4(ITPA):c.381G>T (p.Gln127His) rs556565777 0.00001
NM_033453.4(ITPA):c.388C>T (p.Arg130Cys) rs578227905 0.00001
NM_033453.4(ITPA):c.399G>A (p.Arg133=) rs2067374613 0.00001
NM_033453.4(ITPA):c.404G>A (p.Arg135Gln) rs1328303955 0.00001
NM_033453.4(ITPA):c.410C>A (p.Ser137Ter) rs370326110 0.00001
NM_033453.4(ITPA):c.411+11A>C rs773541411 0.00001
NM_033453.4(ITPA):c.411+12C>G rs747581144 0.00001
NM_033453.4(ITPA):c.411+4C>T rs1228664891 0.00001
NM_033453.4(ITPA):c.411+5G>C rs1299283367 0.00001
NM_033453.4(ITPA):c.411+6T>C rs1339641819 0.00001
NM_033453.4(ITPA):c.384C>A (p.Pro128=) rs968927577
NM_033453.4(ITPA):c.385G>A (p.Val129Met) rs200558616
NM_033453.4(ITPA):c.385G>C (p.Val129Leu) rs200558616
NM_033453.4(ITPA):c.389G>A (p.Arg130His) rs764069034
NM_033453.4(ITPA):c.396C>A (p.Phe132Leu) rs756108585
NM_033453.4(ITPA):c.396C>T (p.Phe132=) rs756108585
NM_033453.4(ITPA):c.402C>T (p.Gly134=) rs2067374813
NM_033453.4(ITPA):c.403C>A (p.Arg135=) rs749416835
NM_033453.4(ITPA):c.403del (p.Arg135fs) rs2514460185
NM_033453.4(ITPA):c.409_410inv (p.Ser137Glu)
NM_033453.4(ITPA):c.411+18T>C rs2514460742
NM_033453.4(ITPA):c.411+1del rs2122396524
NM_033453.4(ITPA):c.411+5G>A rs1299283367

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