ClinVar Miner

List of variants in gene ITPR1 reported as likely benign for Spinocerebellar Ataxia, Dominant

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Total variants: 67
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HGVS dbSNP
NM_001168272.1(ITPR1):c.*1008A>G rs141084091
NM_001168272.1(ITPR1):c.*1156A>C rs73099961
NM_001168272.1(ITPR1):c.*1196T>C rs565045968
NM_001168272.1(ITPR1):c.*1198C>T rs367636150
NM_001168272.1(ITPR1):c.*121G>C rs146903558
NM_001168272.1(ITPR1):c.*1385A>G rs9875113
NM_001168272.1(ITPR1):c.*1533G>A rs377290142
NM_001168272.1(ITPR1):c.*356_*357TG[1] rs113825412
NM_001168272.1(ITPR1):c.*47G>C rs74998763
NM_001168272.1(ITPR1):c.*48T>G rs77764633
NM_001168272.1(ITPR1):c.*643A>T rs41305987
NM_001168272.1(ITPR1):c.*777C>T rs41315884
NM_001168272.1(ITPR1):c.*814_*817dup rs148070806
NM_001168272.1(ITPR1):c.*847G>A rs41304181
NM_001168272.1(ITPR1):c.-244G>A rs577585180
NM_001168272.1(ITPR1):c.-81A>G rs13319720
NM_001168272.1(ITPR1):c.1080G>A (p.Leu360=) rs2306869
NM_001168272.1(ITPR1):c.1206+10G>A rs75936691
NM_001168272.1(ITPR1):c.1257G>A (p.Pro419=) rs34252981
NM_001168272.1(ITPR1):c.1367+11C>T rs7632000
NM_001168272.1(ITPR1):c.1367+13G>A rs11920643
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001168272.1(ITPR1):c.1491A>G (p.Glu497=) rs35047189
NM_001168272.1(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_001168272.1(ITPR1):c.195C>G (p.Arg65=) rs563347395
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_001168272.1(ITPR1):c.2260A>G (p.Met754Val) rs35789999
NM_001168272.1(ITPR1):c.2382G>A (p.Ser794=) rs553559062
NM_001168272.1(ITPR1):c.2388T>A (p.Ile796=) rs145220403
NM_001168272.1(ITPR1):c.2394G>A (p.Ser798=) rs35946460
NM_001168272.1(ITPR1):c.2817G>A (p.Met939Ile) rs543514234
NM_001168272.1(ITPR1):c.3012A>G (p.Ser1004=) rs200705345
NM_001168272.1(ITPR1):c.3162C>T (p.Thr1054=) rs186541002
NM_001168272.1(ITPR1):c.3282+12C>T rs116022052
NM_001168272.1(ITPR1):c.3282+4G>A rs2306878
NM_001168272.1(ITPR1):c.3416A>G (p.Asp1139Gly) rs61751570
NM_001168272.1(ITPR1):c.3660C>T (p.Ala1220=) rs34635052
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3900T>C (p.Asn1300=) rs193212750
NM_001168272.1(ITPR1):c.4182G>C (p.Leu1394=) rs555819278
NM_001168272.1(ITPR1):c.4209G>T (p.Val1403=) rs142527379
NM_001168272.1(ITPR1):c.4218C>G (p.His1406Gln) rs61757110
NM_001168272.1(ITPR1):c.4243A>G (p.Ile1415Val) rs3749383
NM_001168272.1(ITPR1):c.438C>T (p.Ala146=) rs61741506
NM_001168272.1(ITPR1):c.4578C>T (p.Ser1526=) rs34748547
NM_001168272.1(ITPR1):c.4792T>C (p.Leu1598=) rs367643585
NM_001168272.1(ITPR1):c.4809C>T (p.Ser1603=) rs373127487
NM_001168272.1(ITPR1):c.4947-7del rs546612625
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5308+4C>T rs60849754
NM_001168272.1(ITPR1):c.5421C>T (p.Asn1807=) rs113368815
NM_001168272.1(ITPR1):c.5576T>G (p.Val1859Gly) rs143093165
NM_001168272.1(ITPR1):c.57G>A (p.Ala19=) rs200534989
NM_001168272.1(ITPR1):c.625-14A>T rs368114873
NM_001168272.1(ITPR1):c.6465+7T>C rs115430385
NM_001168272.1(ITPR1):c.6651A>G (p.Lys2217=) rs34491089
NM_001168272.1(ITPR1):c.6867G>A (p.Pro2289=) rs200426774
NM_001168272.1(ITPR1):c.7053C>T (p.Gly2351=) rs41290672
NM_001168272.1(ITPR1):c.7464T>C (p.Asp2488=) rs79720149
NM_001168272.1(ITPR1):c.7692C>T (p.Leu2564=) rs148734757
NM_001168272.1(ITPR1):c.8121C>A (p.Gly2707=) rs73098087
NM_001168272.1(ITPR1):c.8145+13_8145+14del rs552585900
NM_001168272.1(ITPR1):c.882C>T (p.Gly294=) rs370157764
NM_001168272.1(ITPR1):c.930G>A (p.Thr310=) rs28565126
NM_001168272.1(ITPR1):c.952-6C>T rs139421901

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