ClinVar Miner

List of variants in gene ITPR1 reported as benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
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.1151+5C>G rs2306868 0.13045
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001378452.1(ITPR1):c.*979A>T rs147782346 0.00226
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
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.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001378452.1(ITPR1):c.*1008A>G rs141084091 0.00022
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.-315C>T rs572878578
NM_001378452.1(ITPR1):c.-341A>T rs565843811
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_002222.6(ITPR1):c.*1531G>T rs9817206

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