ClinVar Miner

List of variants in gene INTU studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 294
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HGVS dbSNP gnomAD frequency
NM_015693.4(INTU):c.1503+54A>C rs12331481 0.61078
NM_015693.4(INTU):c.813G>A (p.Thr271=) rs4833380 0.59996
NM_015693.4(INTU):c.2559+188C>T rs4834211 0.55578
NM_015693.4(INTU):c.471A>G (p.Arg157=) rs3749507 0.55539
NM_015693.4(INTU):c.146+69G>A rs2255457 0.45415
NM_015693.4(INTU):c.1788+83C>T rs7683627 0.44527
NM_015693.4(INTU):c.2560-69C>T rs34240473 0.39591
NM_015693.4(INTU):c.2370-45A>G rs2305956 0.16932
NM_015693.4(INTU):c.683-201T>G rs75447657 0.04562
NM_015693.4(INTU):c.1091+95A>G rs10024724 0.04204
NM_015693.4(INTU):c.*46A>G rs80127004 0.04065
NM_015693.4(INTU):c.2370-209A>G rs17379648 0.03693
NM_015693.4(INTU):c.894C>T (p.Ile298=) rs35147318 0.02737
NM_015693.4(INTU):c.1503+83G>A rs72616933 0.02731
NM_015693.4(INTU):c.769-32G>A rs72616924 0.02703
NM_015693.4(INTU):c.2247A>C (p.Leu749Phe) rs35858752 0.02701
NC_000004.12:g.127632734G>A rs9942183 0.02696
NM_015693.4(INTU):c.1503+186C>T rs72616934 0.02692
NC_000004.12:g.127632830C>A rs9942182 0.02684
NM_015693.4(INTU):c.1504-108A>G rs73847046 0.02132
NM_015693.4(INTU):c.1091+168A>G rs57736915 0.01903
NM_015693.4(INTU):c.1504-20A>G rs6827949 0.01334
NM_015693.4(INTU):c.2074T>G (p.Cys692Gly) rs34311863 0.00835
NM_015693.4(INTU):c.104T>C (p.Val35Ala) rs117754102 0.00210
NM_015693.4(INTU):c.1109A>T (p.Asn370Ile) rs143095951 0.00098
NM_015693.4(INTU):c.2669G>C (p.Trp890Ser) rs187393671 0.00046
NM_015693.4(INTU):c.1650A>T (p.Leu550Phe) rs148444990 0.00041
NM_015693.4(INTU):c.2787C>T (p.Ala929=) rs147854962 0.00041
NM_015693.4(INTU):c.2085G>A (p.Thr695=) rs548278763 0.00040
NM_015693.4(INTU):c.2267T>C (p.Leu756Pro) rs141542449 0.00031
NM_015693.4(INTU):c.2527C>T (p.Arg843Cys) rs778337257 0.00014
NM_015693.4(INTU):c.984T>G (p.Leu328=) rs143236402 0.00012
NM_015693.4(INTU):c.683-10C>A rs761746987 0.00006
NM_015693.4(INTU):c.1450-19T>C rs186729364 0.00005
NM_015693.4(INTU):c.2407G>A (p.Val803Ile) rs371347616 0.00005
NM_015693.4(INTU):c.826C>T (p.Gln276Ter) rs373900644 0.00003
NM_015693.4(INTU):c.2255G>C (p.Ser752Thr) rs764304392 0.00002
NM_015693.4(INTU):c.1092-5C>G rs1371965730 0.00001
NM_015693.4(INTU):c.2133T>G (p.Cys711Trp) rs781734583 0.00001
NM_015693.4(INTU):c.2559+15T>C rs1181683616 0.00001
NM_015693.4(INTU):c.792A>G (p.Ala264=) rs561534751 0.00001
GRCh37/hg19 4q28.1(chr4:127172516-128570909)x4
NC_000004.11:g.(?_128554190)_(128565231_?)dup
NC_000004.11:g.(?_128637460)_(128637591_?)del
NM_015693.4(INTU):c.1001C>T (p.Ser334Phe)
NM_015693.4(INTU):c.1020T>C (p.Leu340=)
NM_015693.4(INTU):c.1024dup (p.Ser342fs)
NM_015693.4(INTU):c.1027G>A (p.Val343Met)
NM_015693.4(INTU):c.107G>C (p.Ser36Thr)
NM_015693.4(INTU):c.1085T>C (p.Val362Ala)
NM_015693.4(INTU):c.1092-12A>G
NM_015693.4(INTU):c.1092-4T>G
NM_015693.4(INTU):c.1092-9G>C
NM_015693.4(INTU):c.109G>T (p.Asp37Tyr)
NM_015693.4(INTU):c.1106T>G (p.Leu369Ter)
NM_015693.4(INTU):c.1128G>A (p.Val376=)
NM_015693.4(INTU):c.1133A>G (p.Tyr378Cys)
NM_015693.4(INTU):c.114G>C (p.Ser38=)
NM_015693.4(INTU):c.1163T>C (p.Ile388Thr)
NM_015693.4(INTU):c.1164T>C (p.Ile388=)
NM_015693.4(INTU):c.1165G>A (p.Gly389Ser)
NM_015693.4(INTU):c.1166G>A (p.Gly389Asp)
NM_015693.4(INTU):c.1181+10G>A
NM_015693.4(INTU):c.1181+10G>C
NM_015693.4(INTU):c.1181+6T>C
NM_015693.4(INTU):c.1182-8T>C
NM_015693.4(INTU):c.1196G>A (p.Arg399His)
NM_015693.4(INTU):c.1196_1198del (p.Arg399del)
NM_015693.4(INTU):c.1228A>T (p.Thr410Ser)
NM_015693.4(INTU):c.1257T>C (p.Asp419=)
NM_015693.4(INTU):c.1259+18T>C
NM_015693.4(INTU):c.1259+3A>G
NM_015693.4(INTU):c.130G>A (p.Ala44Thr)
NM_015693.4(INTU):c.131C>T (p.Ala44Val)
NM_015693.4(INTU):c.1450-16T>A
NM_015693.4(INTU):c.1450-6A>G
NM_015693.4(INTU):c.1450-8del
NM_015693.4(INTU):c.1450-9T>G rs73847044
NM_015693.4(INTU):c.1450-9_1450-8del
NM_015693.4(INTU):c.1450-9_1450-8insG
NM_015693.4(INTU):c.1453G>A (p.Glu485Lys)
NM_015693.4(INTU):c.146+12A>G
NM_015693.4(INTU):c.146+16A>C
NM_015693.4(INTU):c.147-4A>G
NM_015693.4(INTU):c.147-4A>T
NM_015693.4(INTU):c.1483G>A (p.Ala495Thr)
NM_015693.4(INTU):c.149A>C (p.Asp50Ala)
NM_015693.4(INTU):c.1503+16G>A
NM_015693.4(INTU):c.1504-8del
NM_015693.4(INTU):c.1517A>C (p.Tyr506Ser)
NM_015693.4(INTU):c.1522A>G (p.Met508Val)
NM_015693.4(INTU):c.1538C>A (p.Thr513Lys)
NM_015693.4(INTU):c.1576A>T (p.Ile526Leu)
NM_015693.4(INTU):c.1579T>A (p.Cys527Ser)
NM_015693.4(INTU):c.1591C>T (p.Pro531Ser)
NM_015693.4(INTU):c.1597G>T (p.Asp533Tyr)
NM_015693.4(INTU):c.1600G>A (p.Asp534Asn)
NM_015693.4(INTU):c.1607T>C (p.Ile536Thr)
NM_015693.4(INTU):c.1617C>T (p.Ala539=)
NM_015693.4(INTU):c.1622A>G (p.Tyr541Cys)
NM_015693.4(INTU):c.1626T>G (p.Cys542Trp)
NM_015693.4(INTU):c.1627C>T (p.Arg543Cys)
NM_015693.4(INTU):c.1633T>A (p.Tyr545Asn)
NM_015693.4(INTU):c.1640T>A (p.Leu547Gln)
NM_015693.4(INTU):c.1648T>G (p.Leu550Val)
NM_015693.4(INTU):c.1684T>C (p.Trp562Arg)
NM_015693.4(INTU):c.1700C>T (p.Pro567Leu)
NM_015693.4(INTU):c.1710C>T (p.His570=)
NM_015693.4(INTU):c.1712T>G (p.Leu571Arg)
NM_015693.4(INTU):c.1715G>A (p.Arg572Gln)
NM_015693.4(INTU):c.1730C>G (p.Ser577Ter)
NM_015693.4(INTU):c.1737T>C (p.Thr579=)
NM_015693.4(INTU):c.1749G>A (p.Pro583=)
NM_015693.4(INTU):c.1773G>A (p.Leu591=)
NM_015693.4(INTU):c.1775T>A (p.Leu592Gln)
NM_015693.4(INTU):c.1796A>G (p.Tyr599Cys)
NM_015693.4(INTU):c.1800G>A (p.Met600Ile) rs2148732139
NM_015693.4(INTU):c.1816G>A (p.Glu606Lys)
NM_015693.4(INTU):c.1831G>A (p.Ala611Thr)
NM_015693.4(INTU):c.1833A>G (p.Ala611=)
NM_015693.4(INTU):c.1842T>C (p.Ala614=)
NM_015693.4(INTU):c.1844T>A (p.Ile615Asn)
NM_015693.4(INTU):c.1869A>G (p.Val623=)
NM_015693.4(INTU):c.1872T>C (p.Tyr624=)
NM_015693.4(INTU):c.1880A>G (p.Gln627Arg)
NM_015693.4(INTU):c.1882G>C (p.Val628Leu)
NM_015693.4(INTU):c.1895_1896del (p.Leu632fs)
NM_015693.4(INTU):c.1902G>A (p.Gln634=)
NM_015693.4(INTU):c.1904T>C (p.Leu635Pro)
NM_015693.4(INTU):c.1956_1957del (p.Cys653fs)
NM_015693.4(INTU):c.1965T>C (p.Ser655=)
NM_015693.4(INTU):c.1977G>C (p.Trp659Cys)
NM_015693.4(INTU):c.198T>G (p.Phe66Leu)
NM_015693.4(INTU):c.1993C>T (p.Arg665Cys)
NM_015693.4(INTU):c.1994G>A (p.Arg665His)
NM_015693.4(INTU):c.2017A>G (p.Thr673Ala)
NM_015693.4(INTU):c.2021C>T (p.Ser674Leu)
NM_015693.4(INTU):c.2022G>A (p.Ser674=)
NM_015693.4(INTU):c.2026A>G (p.Ile676Val)
NM_015693.4(INTU):c.2045G>C (p.Gly682Ala)
NM_015693.4(INTU):c.2045G>T (p.Gly682Val)
NM_015693.4(INTU):c.2068C>T (p.Pro690Ser)
NM_015693.4(INTU):c.2082A>G (p.Arg694=)
NM_015693.4(INTU):c.2099A>G (p.Tyr700Cys)
NM_015693.4(INTU):c.2111C>T (p.Thr704Ile)
NM_015693.4(INTU):c.2113C>T (p.Arg705Cys)
NM_015693.4(INTU):c.2114G>A (p.Arg705His) rs78533412
NM_015693.4(INTU):c.2122A>C (p.Ser708Arg)
NM_015693.4(INTU):c.212G>A (p.Ser71Asn)
NM_015693.4(INTU):c.2131T>C (p.Cys711Arg)
NM_015693.4(INTU):c.2139T>C (p.Ser713=)
NM_015693.4(INTU):c.2167G>A (p.Gly723Arg)
NM_015693.4(INTU):c.216G>A (p.Glu72=)
NM_015693.4(INTU):c.2173del (p.Asp725fs)
NM_015693.4(INTU):c.217G>T (p.Asp73Tyr)
NM_015693.4(INTU):c.2192A>G (p.His731Arg)
NM_015693.4(INTU):c.2201C>T (p.Pro734Leu)
NM_015693.4(INTU):c.2202G>A (p.Pro734=)
NM_015693.4(INTU):c.2209G>A (p.Val737Ile) rs1220546714
NM_015693.4(INTU):c.2212C>T (p.Arg738Trp)
NM_015693.4(INTU):c.2213G>A (p.Arg738Gln)
NM_015693.4(INTU):c.2223A>G (p.Arg741=)
NM_015693.4(INTU):c.2241T>C (p.Asp747=)
NM_015693.4(INTU):c.2247_2248delinsCA (p.Leu749_Glu750delinsPheLys)
NM_015693.4(INTU):c.2257G>A (p.Gly753Arg)
NM_015693.4(INTU):c.2266C>T (p.Leu756Phe)
NM_015693.4(INTU):c.2271G>A (p.Lys757=)
NM_015693.4(INTU):c.229A>G (p.Ser77Gly)
NM_015693.4(INTU):c.234C>T (p.Leu78=)
NM_015693.4(INTU):c.2370-10del
NM_015693.4(INTU):c.2370-5T>C
NM_015693.4(INTU):c.2370-8_2370-4del
NM_015693.4(INTU):c.2373G>A (p.Leu791=)
NM_015693.4(INTU):c.2375C>T (p.Thr792Ile)
NM_015693.4(INTU):c.2391del (p.Asn797fs)
NM_015693.4(INTU):c.2406C>T (p.Tyr802=)
NM_015693.4(INTU):c.2411C>T (p.Ala804Val)
NM_015693.4(INTU):c.2436T>C (p.Phe812=)
NM_015693.4(INTU):c.2449C>G (p.Leu817Val)
NM_015693.4(INTU):c.2459T>C (p.Val820Ala)
NM_015693.4(INTU):c.2464C>T (p.Gln822Ter)
NM_015693.4(INTU):c.2464_2465delinsAG (p.Gln822Arg)
NM_015693.4(INTU):c.2491C>G (p.Leu831Val)
NM_015693.4(INTU):c.2512T>C (p.Cys838Arg)
NM_015693.4(INTU):c.2524A>G (p.Ile842Val)
NM_015693.4(INTU):c.2547A>G (p.Thr849=)
NM_015693.4(INTU):c.2548T>C (p.Leu850=)
NM_015693.4(INTU):c.2559+19T>A
NM_015693.4(INTU):c.2559+3A>G
NM_015693.4(INTU):c.2560-13T>A
NM_015693.4(INTU):c.2574A>G (p.Leu858=)
NM_015693.4(INTU):c.2586C>G (p.Asp862Glu)
NM_015693.4(INTU):c.2588A>G (p.His863Arg)
NM_015693.4(INTU):c.2595T>A (p.Asp865Glu) rs2148738991
NM_015693.4(INTU):c.2630A>G (p.Lys877Arg)
NM_015693.4(INTU):c.2641G>T (p.Val881Leu)
NM_015693.4(INTU):c.2651A>G (p.Glu884Gly)
NM_015693.4(INTU):c.2660C>G (p.Pro887Arg)
NM_015693.4(INTU):c.266G>C (p.Arg89Thr)
NM_015693.4(INTU):c.267G>C (p.Arg89Ser) rs1727431574
NM_015693.4(INTU):c.2696T>C (p.Val899Ala)
NM_015693.4(INTU):c.2699T>C (p.Met900Thr)
NM_015693.4(INTU):c.269T>C (p.Phe90Ser)
NM_015693.4(INTU):c.2708_2714dup (p.Arg907fs) rs1731181959
NM_015693.4(INTU):c.270C>T (p.Phe90=)
NM_015693.4(INTU):c.2712A>T (p.Val904=)
NM_015693.4(INTU):c.2717+17del
NM_015693.4(INTU):c.2717+17dup
NM_015693.4(INTU):c.2717+20A>G
NM_015693.4(INTU):c.2717+215_2717+216del rs72288437
NM_015693.4(INTU):c.2717+21_2717+30del
NM_015693.4(INTU):c.2718-14C>A
NM_015693.4(INTU):c.2718-14C>T
NM_015693.4(INTU):c.2721A>G (p.Arg907=)
NM_015693.4(INTU):c.2739dup (p.Pro914fs)
NM_015693.4(INTU):c.2741C>G (p.Pro914Arg)
NM_015693.4(INTU):c.2771C>T (p.Ser924Leu)
NM_015693.4(INTU):c.2775C>T (p.Val925=)
NM_015693.4(INTU):c.2810T>C (p.Phe937Ser)
NM_015693.4(INTU):c.283A>C (p.Ile95Leu)
NM_015693.4(INTU):c.287T>C (p.Ile96Thr)
NM_015693.4(INTU):c.295G>A (p.Asp99Asn)
NM_015693.4(INTU):c.310del (p.Arg104fs)
NM_015693.4(INTU):c.319T>C (p.Tyr107His)
NM_015693.4(INTU):c.327C>G (p.Pro109=)
NM_015693.4(INTU):c.32C>G (p.Pro11Arg)
NM_015693.4(INTU):c.337C>A (p.Gln113Lys)
NM_015693.4(INTU):c.356G>C (p.Arg119Thr)
NM_015693.4(INTU):c.35G>A (p.Ser12Asn)
NM_015693.4(INTU):c.379C>T (p.Arg127Cys)
NM_015693.4(INTU):c.37T>G (p.Ser13Ala)
NM_015693.4(INTU):c.380G>A (p.Arg127His)
NM_015693.4(INTU):c.404A>G (p.Asp135Gly)
NM_015693.4(INTU):c.407A>G (p.Asn136Ser)
NM_015693.4(INTU):c.412C>T (p.Pro138Ser)
NM_015693.4(INTU):c.417A>G (p.Val139=)
NM_015693.4(INTU):c.452G>A (p.Gly151Glu)
NM_015693.4(INTU):c.455T>G (p.Val152Gly)
NM_015693.4(INTU):c.463C>T (p.Gln155Ter)
NM_015693.4(INTU):c.469C>T (p.Arg157Ter)
NM_015693.4(INTU):c.470G>A (p.Arg157Gln)
NM_015693.4(INTU):c.470_471delinsAG (p.Arg157Gln)
NM_015693.4(INTU):c.478G>C (p.Asp160His)
NM_015693.4(INTU):c.503A>G (p.Lys168Arg)
NM_015693.4(INTU):c.511A>G (p.Thr171Ala)
NM_015693.4(INTU):c.515T>A (p.Val172Asp)
NM_015693.4(INTU):c.517A>T (p.Ile173Phe)
NM_015693.4(INTU):c.530A>C (p.Glu177Ala)
NM_015693.4(INTU):c.544C>T (p.Leu182=)
NM_015693.4(INTU):c.545del (p.Leu182fs)
NM_015693.4(INTU):c.559G>A (p.Gly187Arg)
NM_015693.4(INTU):c.58C>G (p.Pro20Ala)
NM_015693.4(INTU):c.590G>A (p.Arg197Lys)
NM_015693.4(INTU):c.597C>T (p.Thr199=)
NM_015693.4(INTU):c.59C>T (p.Pro20Leu)
NM_015693.4(INTU):c.607G>A (p.Gly203Ser)
NM_015693.4(INTU):c.608G>T (p.Gly203Val)
NM_015693.4(INTU):c.616G>A (p.Glu206Lys)
NM_015693.4(INTU):c.618G>C (p.Glu206Asp)
NM_015693.4(INTU):c.625G>A (p.Val209Met)
NM_015693.4(INTU):c.651A>T (p.Gly217=)
NM_015693.4(INTU):c.659T>C (p.Met220Thr)
NM_015693.4(INTU):c.666C>T (p.Ser222=)
NM_015693.4(INTU):c.667G>A (p.Gly223Ser)
NM_015693.4(INTU):c.668G>A (p.Gly223Asp)
NM_015693.4(INTU):c.682+20A>C
NM_015693.4(INTU):c.683-13A>T
NM_015693.4(INTU):c.683-16G>C rs56223823
NM_015693.4(INTU):c.684T>G (p.Gly228=)
NM_015693.4(INTU):c.688G>A (p.Val230Ile)
NM_015693.4(INTU):c.69AGA[2] (p.Glu25del)
NM_015693.4(INTU):c.704A>G (p.Asn235Ser)
NM_015693.4(INTU):c.712G>A (p.Asp238Asn)
NM_015693.4(INTU):c.732C>T (p.Ile244=)
NM_015693.4(INTU):c.737G>C (p.Arg246Thr)
NM_015693.4(INTU):c.75A>T (p.Glu25Asp)
NM_015693.4(INTU):c.768+12C>G
NM_015693.4(INTU):c.768+20A>G
NM_015693.4(INTU):c.768+8C>A
NM_015693.4(INTU):c.769-19A>T
NM_015693.4(INTU):c.769-4A>C
NM_015693.4(INTU):c.77A>T (p.Asp26Val)
NM_015693.4(INTU):c.800T>C (p.Val267Ala)
NM_015693.4(INTU):c.801G>A (p.Val267=)
NM_015693.4(INTU):c.811A>T (p.Thr271Ser)
NM_015693.4(INTU):c.83A>T (p.Asp28Val)
NM_015693.4(INTU):c.861C>G (p.Val287=) rs1386933326
NM_015693.4(INTU):c.92T>A (p.Phe31Tyr)
NM_015693.4(INTU):c.931T>C (p.Tyr311His)
NM_015693.4(INTU):c.940C>G (p.Leu314Val)
NM_015693.4(INTU):c.948C>T (p.Leu316=)
NM_015693.4(INTU):c.957A>G (p.Glu319=)
NM_015693.4(INTU):c.972+10del
NM_015693.4(INTU):c.972+20C>T

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