ClinVar Miner

List of variants in gene ITPR1 studied for anterior segment dysgenesis

Included ClinVar conditions (34):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001378452.1(ITPR1):c.1554+17G>A rs80123990 0.01028
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) rs949938763 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1252-10T>A rs2125191741
NM_001378452.1(ITPR1):c.1252-2A>T rs1559638068
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr) rs2093919890
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr) rs746128987
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter) rs878853172
NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr) rs2094142451
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.3617A>G (p.Lys1206Arg)
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys) rs1168676216
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001378452.1(ITPR1):c.4403G>T (p.Cys1468Phe)
NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys) rs2093352735
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter) rs878853171
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_001378452.1(ITPR1):c.4885C>T (p.Gln1629Ter)
NM_001378452.1(ITPR1):c.5980-17G>A rs2046415471
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly) rs878853177
NM_001378452.1(ITPR1):c.6401A>G (p.Lys2134Arg)
NM_001378452.1(ITPR1):c.6510+3A>T rs878853173
NM_001378452.1(ITPR1):c.6808+5G>T rs878853174
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001378452.1(ITPR1):c.951+6_951+8del rs2093612036

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