ClinVar Miner

List of variants reported as likely benign for Inosine triphosphatase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033453.4(ITPA):c.124C>T (p.Leu42=) rs142574480 0.00069
NM_033453.4(ITPA):c.258C>T (p.Pro86=) rs201971455 0.00051
NM_033453.4(ITPA):c.222T>C (p.Cys74=) rs144254646 0.00031
NM_033453.4(ITPA):c.96A>G (p.Pro32=) rs144682597 0.00030
NM_033453.4(ITPA):c.125-25T>C rs200506201 0.00028
NM_033453.4(ITPA):c.124+7C>T rs113777460 0.00024
NM_033453.4(ITPA):c.49G>T (p.Ala17Ser) rs754960642 0.00016
NM_033453.4(ITPA):c.519C>T (p.Asn173=) rs145578636 0.00010
NM_033453.4(ITPA):c.103T>C (p.Leu35=) rs761555605 0.00004
NM_033453.4(ITPA):c.296-18C>T rs754679463 0.00004
NM_033453.4(ITPA):c.411+11A>C rs773541411 0.00004
NM_033453.4(ITPA):c.488+11C>G rs777986111 0.00004
NM_033453.4(ITPA):c.510G>A (p.Ala170=) rs374703513 0.00004
NM_033453.4(ITPA):c.567T>C (p.Phe189=) rs183325660 0.00004
NM_033453.4(ITPA):c.124+11G>C rs545393698 0.00003
NM_033453.4(ITPA):c.252C>T (p.Pro84=) rs751182646 0.00003
NM_033453.4(ITPA):c.318G>A (p.Gly106=) rs769078931 0.00003
NM_033453.4(ITPA):c.147G>A (p.Pro49=) rs777528511 0.00002
NM_033453.4(ITPA):c.516G>A (p.Lys172=) rs754560867 0.00002
NM_033453.4(ITPA):c.125-12T>G rs374874902 0.00001
NM_033453.4(ITPA):c.125-16C>G rs767824484 0.00001
NM_033453.4(ITPA):c.125-17T>A rs761938281 0.00001
NM_033453.4(ITPA):c.159C>T (p.Ser53=) rs939381685 0.00001
NM_033453.4(ITPA):c.190-7G>A rs1600504484 0.00001
NM_033453.4(ITPA):c.195G>A (p.Gln65=) rs897569949 0.00001
NM_033453.4(ITPA):c.201C>T (p.Pro67=) rs1456656667 0.00001
NM_033453.4(ITPA):c.207G>T (p.Leu69=) rs759942180 0.00001
NM_033453.4(ITPA):c.357A>T (p.Ala119=) rs946985349 0.00001
NM_033453.4(ITPA):c.366C>T (p.Thr122=) rs1358256041 0.00001
NM_033453.4(ITPA):c.412-17C>A rs919456046 0.00001
NM_033453.4(ITPA):c.412-18C>A rs1238339105 0.00001
NM_033453.4(ITPA):c.420C>T (p.Ile140=) rs374366773 0.00001
NM_033453.4(ITPA):c.492C>T (p.Tyr164=) rs751753003 0.00001
NM_033453.4(ITPA):c.579A>G (p.Ala193=) rs754328088 0.00001
NM_033453.4(ITPA):c.66+17G>A rs776956059 0.00001
NM_033453.4(ITPA):c.69C>T (p.Val23=) rs757523885 0.00001
NM_033453.4(ITPA):c.6G>T (p.Ala2=) rs774967345 0.00001
NM_033453.4(ITPA):c.93T>C (p.Phe31=) rs555480105 0.00001
NM_033453.4(ITPA):c.9C>T (p.Ala3=) rs1465161090 0.00001
NM_033453.4(ITPA):c.117A>G (p.Lys39=) rs538432614
NM_033453.4(ITPA):c.124+13T>C
NM_033453.4(ITPA):c.124+16_124+20del rs777029172
NM_033453.4(ITPA):c.124+20T>C rs2067214114
NM_033453.4(ITPA):c.125-8C>G
NM_033453.4(ITPA):c.126G>A (p.Leu42=) rs1555773611
NM_033453.4(ITPA):c.129G>A (p.Pro43=) rs146112146
NM_033453.4(ITPA):c.129G>C (p.Pro43=)
NM_033453.4(ITPA):c.129G>T (p.Pro43=) rs146112146
NM_033453.4(ITPA):c.135C>T (p.Tyr45=) rs2122320741
NM_033453.4(ITPA):c.13T>C (p.Leu5=)
NM_033453.4(ITPA):c.156T>A (p.Ile52=)
NM_033453.4(ITPA):c.162A>T (p.Ile54=)
NM_033453.4(ITPA):c.189+10C>T rs2122321773
NM_033453.4(ITPA):c.189+11T>G
NM_033453.4(ITPA):c.189+12G>C rs2122321833
NM_033453.4(ITPA):c.189+12G>T rs2122321833
NM_033453.4(ITPA):c.189+8C>T
NM_033453.4(ITPA):c.192A>G (p.Val64=)
NM_033453.4(ITPA):c.198G>A (p.Gly66=) rs1166191164
NM_033453.4(ITPA):c.249C>T (p.Leu83=)
NM_033453.4(ITPA):c.263+10T>C
NM_033453.4(ITPA):c.263+13C>T
NM_033453.4(ITPA):c.263+15C>T
NM_033453.4(ITPA):c.263+16C>T
NM_033453.4(ITPA):c.263+19C>T
NM_033453.4(ITPA):c.263+20C>A rs375335280
NM_033453.4(ITPA):c.264-13C>A
NM_033453.4(ITPA):c.295+10G>T rs769090298
NM_033453.4(ITPA):c.295+16T>C
NM_033453.4(ITPA):c.296-10C>T
NM_033453.4(ITPA):c.296-11C>T
NM_033453.4(ITPA):c.296-18C>G
NM_033453.4(ITPA):c.296-19C>T
NM_033453.4(ITPA):c.296-20C>T
NM_033453.4(ITPA):c.296-4G>A rs2122393433
NM_033453.4(ITPA):c.296-6C>T
NM_033453.4(ITPA):c.296-8A>G
NM_033453.4(ITPA):c.309C>T (p.Leu103=)
NM_033453.4(ITPA):c.324G>A (p.Glu108=)
NM_033453.4(ITPA):c.342G>T (p.Ala114=) rs1348318318
NM_033453.4(ITPA):c.345C>T (p.Leu115=)
NM_033453.4(ITPA):c.357A>G (p.Ala119=)
NM_033453.4(ITPA):c.384C>A (p.Pro128=) rs968927577
NM_033453.4(ITPA):c.396C>T (p.Phe132=)
NM_033453.4(ITPA):c.399G>A (p.Arg133=)
NM_033453.4(ITPA):c.402C>T (p.Gly134=) rs2067374813
NM_033453.4(ITPA):c.403C>A (p.Arg135=)
NM_033453.4(ITPA):c.411+12C>G
NM_033453.4(ITPA):c.411+18T>C
NM_033453.4(ITPA):c.412-10C>A
NM_033453.4(ITPA):c.412-15C>T
NM_033453.4(ITPA):c.412-16C>A
NM_033453.4(ITPA):c.429C>A (p.Pro143=)
NM_033453.4(ITPA):c.42G>C (p.Thr14=) rs1257840478
NM_033453.4(ITPA):c.430A>C (p.Arg144=)
NM_033453.4(ITPA):c.432A>G (p.Arg144=)
NM_033453.4(ITPA):c.488+17_488+21del
NM_033453.4(ITPA):c.488+20T>A
NM_033453.4(ITPA):c.489-16T>C
NM_033453.4(ITPA):c.489-18G>T rs1343149914
NM_033453.4(ITPA):c.489-6C>T
NM_033453.4(ITPA):c.489-9del
NM_033453.4(ITPA):c.48C>T (p.Asn16=) rs2122274205
NM_033453.4(ITPA):c.534C>A (p.Arg178=) rs1600541852
NM_033453.4(ITPA):c.547C>T (p.Leu183=)
NM_033453.4(ITPA):c.549G>A (p.Leu183=)
NM_033453.4(ITPA):c.570C>G (p.Gly190=)
NM_033453.4(ITPA):c.570C>T (p.Gly190=)
NM_033453.4(ITPA):c.584G>A (p.Ter195=)
NM_033453.4(ITPA):c.66+10G>A rs2067125837
NM_033453.4(ITPA):c.66+10G>C
NM_033453.4(ITPA):c.66+12_66+14dup rs746707417
NM_033453.4(ITPA):c.66+15T>C
NM_033453.4(ITPA):c.66+16T>G
NM_033453.4(ITPA):c.66+18G>A rs1467169385
NM_033453.4(ITPA):c.67-12_67-8del rs771313305
NM_033453.4(ITPA):c.67-19C>T
NM_033453.4(ITPA):c.67-9T>C rs1352400849
NM_033453.4(ITPA):c.69C>G (p.Val23=) rs757523885
NM_033453.4(ITPA):c.99C>T (p.Cys33=) rs2122318173

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.