ClinVar Miner

List of variants in gene ITPR1 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.8029-292A>G rs11130159 0.99081
NM_001378452.1(ITPR1):c.856-151C>T rs6442894 0.97344
NM_001378452.1(ITPR1):c.8029-242T>C rs11130160 0.97337
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_001378452.1(ITPR1):c.6388-172T>C rs6442907 0.96296
NM_001378452.1(ITPR1):c.7868-41G>A rs9844268 0.94897
NM_001378452.1(ITPR1):c.855+308T>C rs4293683 0.94210
NM_001378452.1(ITPR1):c.855+136A>G rs4271897 0.82503
NM_001378452.1(ITPR1):c.625-209A>G rs2686606 0.81910
NM_001378452.1(ITPR1):c.951+166C>G rs6442897 0.80492
NM_001378452.1(ITPR1):c.855+165A>G rs4303850 0.80473
NM_001378452.1(ITPR1):c.8029-123T>C rs2270747 0.78821
NM_001378452.1(ITPR1):c.6181-156T>C rs4684443 0.73199
NM_001378452.1(ITPR1):c.6388-291T>C rs6442906 0.69533
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.2204+100A>T rs2306876 0.67550
NM_001378452.1(ITPR1):c.5220+234del rs34222640 0.66506
NM_001378452.1(ITPR1):c.2007-179G>A rs1994500 0.54626
NM_001378452.1(ITPR1):c.6616-219A>G rs4685820 0.51133
NM_001378452.1(ITPR1):c.6809-287C>T rs2270748 0.48614
NM_001378452.1(ITPR1):c.4536+196A>G rs9311395 0.45677
NM_001378452.1(ITPR1):c.93-41T>G rs1038639 0.43476
NM_001378452.1(ITPR1):c.4282-57A>G rs3749382 0.42929
NM_001378452.1(ITPR1):c.4282-178T>C rs3749381 0.42884
NM_001378452.1(ITPR1):c.4992-240dup rs11448301 0.42807
NM_001378452.1(ITPR1):c.3703-230_3703-229insC rs34573408 0.42602
NM_001378452.1(ITPR1):c.4029+241C>G rs6786081 0.42202
NM_001378452.1(ITPR1):c.3829-158G>A rs4685801 0.41000
NM_001378452.1(ITPR1):c.4843-207T>G rs3816835 0.40112
NM_001378452.1(ITPR1):c.2598+187T>C rs3804984 0.38971
NM_001378452.1(ITPR1):c.4536+651A>G rs6762644 0.38968
NM_001378452.1(ITPR1):c.3498+205A>G rs2306879 0.37010
NM_001378452.1(ITPR1):c.4536+626A>G rs6762558 0.33866
NM_001378452.1(ITPR1):c.5103+160A>G rs2306881 0.33866
NM_001378452.1(ITPR1):c.1252-219T>C rs6801563 0.32763
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001378452.1(ITPR1):c.3161+202A>C rs56024065 0.29282
NM_001378452.1(ITPR1):c.6616-210G>A rs11712938 0.29053
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.3702+57T>G rs733018 0.25473
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.5979+154C>T rs2053501 0.24091
NM_001378452.1(ITPR1):c.3106+218T>G rs2633722 0.21686
NM_001378452.1(ITPR1):c.3106+256C>T rs41289638 0.21129
NM_001378452.1(ITPR1):c.3107-264C>T rs4684437 0.21109
NM_001378452.1(ITPR1):c.625-257C>T rs4594601 0.19098
NM_001378452.1(ITPR1):c.8190+124C>T rs41290678 0.19016
NM_001378452.1(ITPR1):c.164-332T>C rs9832246 0.18972
NM_001378452.1(ITPR1):c.5354-64A>G rs11920001 0.18106
NM_001378452.1(ITPR1):c.4842+158G>A rs34548572 0.16922
NM_001378452.1(ITPR1):c.951+57C>T rs28461825 0.16528
NM_001378452.1(ITPR1):c.951+41G>A rs28724276 0.16500
NM_001378452.1(ITPR1):c.5354-186T>G rs11920824 0.16495
NM_001378452.1(ITPR1):c.163+132G>C rs304015 0.16424
NM_001378452.1(ITPR1):c.951+51G>A rs28592010 0.16268
NM_001378452.1(ITPR1):c.4992-143G>A rs9813210 0.15310
NM_001378452.1(ITPR1):c.855+86T>A rs41289624 0.15147
NM_001378452.1(ITPR1):c.6291+330C>T rs35840266 0.15091
NM_001378452.1(ITPR1):c.996+110G>A rs13316843 0.14767
NM_001378452.1(ITPR1):c.4992-263C>T rs17041262 0.14164
NM_001378452.1(ITPR1):c.3106+157A>G rs9866640 0.13635
NM_001378452.1(ITPR1):c.952-156A>G rs17041109 0.13478
NM_001378452.1(ITPR1):c.997-32T>C rs2306870 0.13087
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001378452.1(ITPR1):c.1251+26C>T rs6783245 0.12901
NM_001378452.1(ITPR1):c.1251+87_1251+88insT rs11446330 0.12901
NM_001378452.1(ITPR1):c.-16-145A>G rs56378811 0.12840
NM_001378452.1(ITPR1):c.855+241T>G rs17760545 0.12831
NM_001378452.1(ITPR1):c.1714-137G>A rs17041147 0.12660
NM_001378452.1(ITPR1):c.1252-109T>A rs6801737 0.12646
NM_001378452.1(ITPR1):c.1714-64G>T rs7625003 0.12639
NM_001378452.1(ITPR1):c.6615+179T>A rs73003088 0.12507
NM_001378452.1(ITPR1):c.1886+300C>T rs7650467 0.12343
NM_001378452.1(ITPR1):c.997-81T>C rs2306871 0.11184
NM_001378452.1(ITPR1):c.2599-80T>C rs13082052 0.10014
NM_001378452.1(ITPR1):c.6387+275A>G rs73003023 0.09891
NM_001378452.1(ITPR1):c.6292-215G>A rs17729525 0.09473
NM_001378452.1(ITPR1):c.4281+108C>T rs6793265 0.08811
NM_001378452.1(ITPR1):c.164-225G>A rs57917131 0.08573
NM_001378452.1(ITPR1):c.6616-56T>C rs17786144 0.08359
NM_001378452.1(ITPR1):c.1887-205C>A rs2306874 0.07791
NM_001378452.1(ITPR1):c.2456+194G>T rs78487649 0.07573
NM_001378452.1(ITPR1):c.1252-208A>G rs79145630 0.07036
NM_001378452.1(ITPR1):c.-16-56T>C rs9829878 0.06186
NM_001378452.1(ITPR1):c.4029+185C>G rs17041208 0.06164
NM_001378452.1(ITPR1):c.2205-320A>G rs79546819 0.05869
NM_001378452.1(ITPR1):c.4029+135T>A rs56331780 0.05807
NM_001378452.1(ITPR1):c.4281+103T>C rs11919950 0.05766
NM_001378452.1(ITPR1):c.4281+105G>T rs60721566 0.05761
NM_001378452.1(ITPR1):c.2006+162G>A rs78163413 0.05533
NM_001378452.1(ITPR1):c.1713+273G>A rs59359486 0.05197
NM_001378452.1(ITPR1):c.4536+105G>A rs6770659 0.05069
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001378452.1(ITPR1):c.4408-100C>T rs6442904 0.04674
NM_001378452.1(ITPR1):c.4536+263G>A rs58096901 0.04334
NM_001378452.1(ITPR1):c.3702+122A>G rs78245904 0.04182
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_001378452.1(ITPR1):c.2599-217G>A rs73807116 0.04005
NM_001378452.1(ITPR1):c.4408-213G>A rs6442903 0.03927
NM_001378452.1(ITPR1):c.4658-257G>A rs6791460 0.03917
NM_001378452.1(ITPR1):c.164-281del rs111460762 0.02676
NM_001378452.1(ITPR1):c.1413-113T>C rs10514656 0.02637
NM_001378452.1(ITPR1):c.3829-158del rs149798811 0.02540
NM_001378452.1(ITPR1):c.5980-125T>G rs6778543 0.02522
NM_001378452.1(ITPR1):c.5136+123T>A rs78169716 0.02489
NM_001378452.1(ITPR1):c.7107+182T>C rs73807157 0.02436
NM_001378452.1(ITPR1):c.2006+229C>T rs77927338 0.02421
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.5104-299A>G rs76415816 0.02337
NM_001378452.1(ITPR1):c.997-164G>A rs75475590 0.02312
NM_001378452.1(ITPR1):c.2780-138A>G rs143776312 0.02296
NM_001378452.1(ITPR1):c.4992-21C>T rs78376371 0.02269
NM_001378452.1(ITPR1):c.2599-37T>G rs73807117 0.02140
NM_001378452.1(ITPR1):c.1554+228A>G rs74971639 0.02060
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.2205-311G>A rs149220684 0.02017
NM_001378452.1(ITPR1):c.7107+305C>G rs114806495 0.01980
NM_001378452.1(ITPR1):c.4991+311C>T rs17041259 0.01927
NM_001378452.1(ITPR1):c.5136+50G>A rs116081432 0.01895
NM_001378452.1(ITPR1):c.4843-287G>A rs114838346 0.01827
NM_001378452.1(ITPR1):c.2968-325A>G rs79265959 0.01818
NM_001378452.1(ITPR1):c.951+268T>G rs74656548 0.01572
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.1554+17G>A rs80123990 0.01028
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.1886+20C>A rs115097974 0.00819
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.2967+47G>A rs143999073 0.00758
NM_001378452.1(ITPR1):c.4030-17C>T rs72997345 0.00710
NM_001378452.1(ITPR1):c.526-20A>G rs183924664 0.00598
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.2334C>T (p.Leu778=) rs36103112 0.00328
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001378452.1(ITPR1):c.5979+18G>A rs142949720 0.00292
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.624+18T>C rs145400239 0.00221
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.1886+7C>T rs181465598 0.00207
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.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001378452.1(ITPR1):c.5889C>T (p.Asp1963=) rs377489220 0.00140
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.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_001378452.1(ITPR1):c.1449C>T (p.Phe483=) rs192247062 0.00082
NM_001378452.1(ITPR1):c.855+15G>C rs372994951 0.00077
NM_001378452.1(ITPR1):c.3106+13G>A rs374750708 0.00069
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001378452.1(ITPR1):c.3610G>A (p.Val1204Met) rs547074301 0.00064
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_001378452.1(ITPR1):c.3327+14C>A rs369649805 0.00057
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile) rs188558398 0.00048
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=) rs112944532 0.00048
NM_001378452.1(ITPR1):c.526-8C>T rs369328275 0.00039
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=) rs370939479 0.00031
NM_001378452.1(ITPR1):c.6147C>T (p.Thr2049=) rs144178989 0.00025
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.2727G>A (p.Lys909=) rs187516662 0.00015
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=) rs375533002 0.00014
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=) rs201263269 0.00014
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.855+18A>G rs544750246 0.00009
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_001378452.1(ITPR1):c.6348C>T (p.Asn2116=) rs182891619 0.00006
NM_001378452.1(ITPR1):c.7068C>T (p.Val2356=) rs780138157 0.00006
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 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.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.4473C>T (p.Ile1491=) rs192863290 0.00001
NM_001378452.1(ITPR1):c.1033C>A (p.Arg345=) rs369055445
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.1152-10dup
NM_001378452.1(ITPR1):c.164-203A>C rs9828379
NM_001378452.1(ITPR1):c.2456+10G>T
NM_001378452.1(ITPR1):c.2456+191TTTG[3] rs58112934
NM_001378452.1(ITPR1):c.2599-218dup rs199718709
NM_001378452.1(ITPR1):c.279+130G>A rs2307067
NM_001378452.1(ITPR1):c.279+155G>C rs2307066
NM_001378452.1(ITPR1):c.2967+186C>G rs4685796
NM_001378452.1(ITPR1):c.2967+23del
NM_001378452.1(ITPR1):c.3107-92A>G rs4684438
NM_001378452.1(ITPR1):c.3161+248A>G rs7628064
NM_001378452.1(ITPR1):c.3162-15C>T
NM_001378452.1(ITPR1):c.3498+139del rs3215005
NM_001378452.1(ITPR1):c.3564+243C>T rs17041201
NM_001378452.1(ITPR1):c.367-171G>C rs4685784
NM_001378452.1(ITPR1):c.3703-337A>G rs2686624
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_001378452.1(ITPR1):c.4407+184_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+185_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+187_4407+197dup rs369934199
NM_001378452.1(ITPR1):c.4407+44GT[17] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[18] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[20] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[21] rs35795762
NM_001378452.1(ITPR1):c.4407+44GT[22] rs35795762
NM_001378452.1(ITPR1):c.4537-17C>G
NM_001378452.1(ITPR1):c.4657+201G>A rs17041233
NM_001378452.1(ITPR1):c.5451C>T (p.Ile1817=)
NM_001378452.1(ITPR1):c.5726-226T>C rs17041401
NM_001378452.1(ITPR1):c.5979+125T>G rs13086334
NM_001378452.1(ITPR1):c.5979+154_5979+155del rs796445258
NM_001378452.1(ITPR1):c.6111= (p.Asn2037=)
NM_001378452.1(ITPR1):c.6292-53C>A rs7653732
NM_001378452.1(ITPR1):c.6615+226C>T rs73003089
NM_001378452.1(ITPR1):c.6808+276A>G rs6442908
NM_001378452.1(ITPR1):c.7107+204G>T rs2291861
NM_001378452.1(ITPR1):c.7273-15del
NM_001378452.1(ITPR1):c.7273-215A>C rs878135
NM_001378452.1(ITPR1):c.7867+91C>G rs6442911
NM_001378452.1(ITPR1):c.8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-16_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-25_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8029-26_8029-15del rs201029025
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_001378452.1(ITPR1):c.8190+220T>C rs10865951
NM_001378452.1(ITPR1):c.855+59CT[8] rs5846330
NM_001378452.1(ITPR1):c.856-254C>A rs3796336
NM_001378452.1(ITPR1):c.92+29C>G rs73807272
NM_001378452.1(ITPR1):c.951+108A>C rs6442896
NM_001378452.1(ITPR1):c.951+109G>A rs56896093
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001378452.1(ITPR1):c.951+75G>A rs28562557

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.