ClinVar Miner

List of variants in gene ITPR1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 3p26.1(chr3:4513497-4612609)x1
NC_000003.11:g.(?_4558176)_(4562798_?)del
NC_000003.11:g.(?_4669427)_(4715091_?)del
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1252-1G>A
NM_001378452.1(ITPR1):c.1252-1G>C rs1064796337
NM_001378452.1(ITPR1):c.1252-1G>T rs1064796337
NM_001378452.1(ITPR1):c.1252-2A>T rs1559638068
NM_001378452.1(ITPR1):c.1700A>G (p.Tyr567Cys)
NM_001378452.1(ITPR1):c.1702A>G (p.Arg568Gly) rs1322796318
NM_001378452.1(ITPR1):c.1705A>G (p.Lys569Glu) rs2125196920
NM_001378452.1(ITPR1):c.1781C>T (p.Thr594Ile) rs2125201841
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) rs397514536
NM_001378452.1(ITPR1):c.1867C>T (p.Arg623Ter)
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter) rs878853172
NM_001378452.1(ITPR1):c.2377C>T (p.Arg793Ter) rs2125214086
NM_001378452.1(ITPR1):c.279+4_279+7del rs1553654413
NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs) rs1553689752
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) rs121912425
NM_001378452.1(ITPR1):c.3261_3262del (p.Ala1089fs)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter) rs878853171
NM_001378452.1(ITPR1):c.5056C>T (p.Gln1686Ter)
NM_001378452.1(ITPR1):c.5063T>C (p.Leu1688Pro) rs2125283083
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5504T>C (p.Leu1835Pro) rs1114167316
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly) rs878853177
NM_001378452.1(ITPR1):c.6510+3A>T rs878853173
NM_001378452.1(ITPR1):c.6808+5G>T rs878853174
NM_001378452.1(ITPR1):c.7073T>G (p.Leu2358Ter)
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys) rs2125159664
NM_001378452.1(ITPR1):c.7322G>A (p.Ser2441Asn)
NM_001378452.1(ITPR1):c.7352T>C (p.Leu2451Pro) rs1553756062
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu) rs2125159710
NM_001378452.1(ITPR1):c.7899del (p.Val2634fs)
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg) rs797044955
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.806G>T (p.Arg269Leu) rs760588490

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.