ClinVar Miner

List of variants in gene ITPR1 studied for Inborn genetic diseases

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001378452.1(ITPR1):c.5083G>A (p.Asp1695Asn) rs371186107 0.00026
NM_001378452.1(ITPR1):c.532A>G (p.Ile178Val) rs188477537 0.00023
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.5905G>A (p.Ala1969Thr) rs369005032 0.00006
NM_001378452.1(ITPR1):c.3893A>G (p.Asn1298Ser) rs757563485 0.00005
NM_001378452.1(ITPR1):c.2107G>A (p.Asp703Asn) rs185464679 0.00004
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.3564+5G>T rs371420259 0.00004
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser) rs199890939 0.00004
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val) rs747201343 0.00003
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln) rs375223667 0.00003
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.140A>G (p.Asn47Ser) rs561470737 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met) rs776228202 0.00001
NM_001378452.1(ITPR1):c.4015A>G (p.Met1339Val) rs372380638 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001378452.1(ITPR1):c.4658-3C>T rs779986666 0.00001
NM_001378452.1(ITPR1):c.1033C>T (p.Arg345Trp) rs369055445
NM_001378452.1(ITPR1):c.1066G>A (p.Val356Ile)
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.107G>A (p.Arg36His) rs1057518026
NM_001378452.1(ITPR1):c.1093TCC[1] (p.Ser366del)
NM_001378452.1(ITPR1):c.141C>G (p.Asn47Lys)
NM_001378452.1(ITPR1):c.1699T>C (p.Tyr567His) rs1553681758
NM_001378452.1(ITPR1):c.1813C>T (p.Leu605Phe) rs1064796252
NM_001378452.1(ITPR1):c.2020C>T (p.Arg674Cys)
NM_001378452.1(ITPR1):c.2038G>C (p.Val680Leu)
NM_001378452.1(ITPR1):c.2399C>A (p.Thr800Asn)
NM_001378452.1(ITPR1):c.2455G>T (p.Asp819Tyr) rs200199463
NM_001378452.1(ITPR1):c.248C>G (p.Thr83Ser)
NM_001378452.1(ITPR1):c.2513T>C (p.Met838Thr)
NM_001378452.1(ITPR1):c.2516A>G (p.Glu839Gly) rs2094143122
NM_001378452.1(ITPR1):c.2531A>G (p.Tyr844Cys)
NM_001378452.1(ITPR1):c.2707A>G (p.Thr903Ala)
NM_001378452.1(ITPR1):c.2792T>G (p.Met931Arg)
NM_001378452.1(ITPR1):c.3033T>G (p.Phe1011Leu)
NM_001378452.1(ITPR1):c.3079A>G (p.Ser1027Gly) rs1235735557
NM_001378452.1(ITPR1):c.3175C>T (p.Pro1059Ser)
NM_001378452.1(ITPR1):c.3377A>G (p.Lys1126Arg)
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
NM_001378452.1(ITPR1):c.3484C>T (p.His1162Tyr) rs751978872
NM_001378452.1(ITPR1):c.3492A>C (p.Lys1164Asn)
NM_001378452.1(ITPR1):c.3564+3A>G
NM_001378452.1(ITPR1):c.366+4G>A
NM_001378452.1(ITPR1):c.3849G>A (p.Met1283Ile)
NM_001378452.1(ITPR1):c.3889A>G (p.Ile1297Val)
NM_001378452.1(ITPR1):c.4017G>A (p.Met1339Ile)
NM_001378452.1(ITPR1):c.4083C>A (p.Phe1361Leu) rs763239856
NM_001378452.1(ITPR1):c.4126G>A (p.Asp1376Asn)
NM_001378452.1(ITPR1):c.4445C>T (p.Ser1482Leu)
NM_001378452.1(ITPR1):c.4667G>A (p.Arg1556Gln)
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378452.1(ITPR1):c.4740G>T (p.Gln1580His)
NM_001378452.1(ITPR1):c.4791C>G (p.Asp1597Glu)
NM_001378452.1(ITPR1):c.4923A>C (p.Arg1641Ser)
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
NM_001378452.1(ITPR1):c.5348G>A (p.Gly1783Glu)
NM_001378452.1(ITPR1):c.5382C>G (p.Ser1794Arg)
NM_001378452.1(ITPR1):c.5473A>T (p.Ser1825Cys)
NM_001378452.1(ITPR1):c.5834A>G (p.Asp1945Gly)
NM_001378452.1(ITPR1):c.6006G>T (p.Lys2002Asn)
NM_001378452.1(ITPR1):c.6211A>G (p.Ile2071Val)
NM_001378452.1(ITPR1):c.6605C>T (p.Ala2202Val)
NM_001378452.1(ITPR1):c.6646A>G (p.Ile2216Val)
NM_001378452.1(ITPR1):c.6835C>T (p.Arg2279Cys)
NM_001378452.1(ITPR1):c.7000G>A (p.Ala2334Thr)
NM_001378452.1(ITPR1):c.7082C>T (p.Thr2361Met)
NM_001378452.1(ITPR1):c.731A>C (p.His244Pro) rs1085308010
NM_001378452.1(ITPR1):c.736G>A (p.Glu246Lys) rs1553666546
NM_001378452.1(ITPR1):c.7522G>A (p.Glu2508Lys)
NM_001378452.1(ITPR1):c.763G>A (p.Glu255Lys)
NM_001378452.1(ITPR1):c.799A>G (p.Thr267Ala) rs1553666615
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392

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