ClinVar Miner

List of variants in gene STIL studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_001048166.1(STIL):c.*316T>C rs11211488 0.10123
NM_001048166.1(STIL):c.-44+15G>A rs13376465 0.05019
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727 0.00478
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=) rs146387723 0.00460
NM_001048166.1(STIL):c.*545C>T rs181264069 0.00440
NM_001048166.1(STIL):c.2384-13A>G rs140975915 0.00362
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431 0.00258
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001048166.1(STIL):c.*992A>G rs148103615 0.00118
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00111
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001048166.1(STIL):c.467A>G (p.His156Arg) rs141352790 0.00038
NM_001048166.1(STIL):c.*730A>G rs184977531 0.00035
NM_001048166.1(STIL):c.*203C>T rs564629203 0.00033
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001048166.1(STIL):c.1229C>G (p.Pro410Arg) rs202194355 0.00023
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu) rs144586803 0.00022
NM_001048166.1(STIL):c.2064G>A (p.Pro688=) rs138834578 0.00021
NM_001048166.1(STIL):c.227C>T (p.Ser76Leu) rs147160336 0.00019
NM_001048166.1(STIL):c.3170A>G (p.Asn1057Ser) rs143956189 0.00015
NM_001048166.1(STIL):c.1374C>G (p.His458Gln) rs527253805 0.00014
NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu) rs373048037 0.00014
NM_001048166.1(STIL):c.2456A>G (p.Lys819Arg) rs142290334 0.00014
NM_001048166.1(STIL):c.*599A>G rs886046389 0.00011
NM_001048166.1(STIL):c.2063C>T (p.Pro688Leu) rs761677141 0.00011
NM_001048166.1(STIL):c.*978T>C rs886046388 0.00010
NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser) rs201354921 0.00010
NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn) rs369376550 0.00010
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val) rs3766317 0.00007
NM_001048166.1(STIL):c.1507T>G (p.Cys503Gly) rs772401403 0.00006
NM_001048166.1(STIL):c.2359G>A (p.Gly787Ser) rs148818578 0.00006
NM_001048166.1(STIL):c.26G>A (p.Arg9Gln) rs369825711 0.00006
NM_001048166.1(STIL):c.3429C>T (p.Pro1143=) rs144628824 0.00006
NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe) rs550062989 0.00005
NM_001048166.1(STIL):c.*885C>T rs762273630 0.00004
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu) rs201448287 0.00004
NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr) rs199558457 0.00004
NM_001048166.1(STIL):c.3839G>A (p.Arg1280His) rs372680224 0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00004
NM_001048166.1(STIL):c.*883A>G rs181941312 0.00003
NM_001048166.1(STIL):c.-65C>G rs886046393 0.00003
NM_001048166.1(STIL):c.1628C>T (p.Ala543Val) rs746094772 0.00003
NM_001048166.1(STIL):c.2350A>T (p.Met784Leu) rs368689118 0.00003
NM_001048166.1(STIL):c.2855G>A (p.Ser952Asn) rs35447382 0.00003
NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val) rs142210835 0.00003
NM_001048166.1(STIL):c.957T>C (p.Cys319=) rs767180130 0.00003
NM_001048166.1(STIL):c.2829G>C (p.Leu943Phe) rs1004635364 0.00002
NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro) rs780930663 0.00002
NM_001048166.1(STIL):c.3699C>T (p.Thr1233=) rs763127279 0.00002
NM_001048166.1(STIL):c.521A>G (p.His174Arg) rs1200154075 0.00002
NM_001048166.1(STIL):c.*2C>T rs747809307 0.00001
NM_001048166.1(STIL):c.-88C>T rs886046394 0.00001
NM_001048166.1(STIL):c.1140C>T (p.Ser380=) rs183263043 0.00001
NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr) rs888258532 0.00001
NM_001048166.1(STIL):c.1576T>G (p.Ser526Ala) rs973053655 0.00001
NM_001048166.1(STIL):c.1635T>G (p.Asn545Lys) rs770972789 0.00001
NM_001048166.1(STIL):c.1699C>T (p.Pro567Ser) rs778747630 0.00001
NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu) rs754626458 0.00001
NM_001048166.1(STIL):c.1847C>T (p.Pro616Leu) rs754788714 0.00001
NM_001048166.1(STIL):c.2087A>T (p.Asn696Ile) rs886046390 0.00001
NM_001048166.1(STIL):c.2453C>G (p.Thr818Ser) rs1235348126 0.00001
NM_001048166.1(STIL):c.2542G>A (p.Val848Ile) rs587784449 0.00001
NM_001048166.1(STIL):c.25C>T (p.Arg9Trp) rs762659511 0.00001
NM_001048166.1(STIL):c.265+14A>T rs772413402 0.00001
NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile) rs745904390 0.00001
NM_001048166.1(STIL):c.2847A>G (p.Leu949=) rs766451599 0.00001
NM_001048166.1(STIL):c.2957A>G (p.His986Arg) rs199422205 0.00001
NM_001048166.1(STIL):c.3207T>C (p.Ala1069=) rs778016364 0.00001
NM_001048166.1(STIL):c.3637dup (p.Thr1213fs) rs1225063106 0.00001
NM_001048166.1(STIL):c.36G>A (p.Met12Ile) rs587784451 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048166.1(STIL):c.453+5G>A rs863225464 0.00001
NM_001048166.1(STIL):c.454-10G>A rs1045195933 0.00001
NM_001048166.1(STIL):c.*252A>G rs765271015
NM_001048166.1(STIL):c.*577G>A rs11211487
NM_001048166.1(STIL):c.-121C>G rs541027571
NM_001048166.1(STIL):c.-121C>T rs541027571
NM_001048166.1(STIL):c.1011A>C (p.Leu337Phe)
NM_001048166.1(STIL):c.1078C>T (p.Gln360Ter) rs2149046665
NM_001048166.1(STIL):c.1137T>C (p.Ser379=) rs587784447
NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro) rs28472545
NM_001048166.1(STIL):c.1263A>C (p.Gln421His) rs28705368
NM_001048166.1(STIL):c.1421A>G (p.His474Arg) rs886046391
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001048166.1(STIL):c.1550A>G (p.His517Arg) rs1645140047
NM_001048166.1(STIL):c.1667C>T (p.Ser556Phe) rs752376811
NM_001048166.1(STIL):c.2016C>T (p.Gly672=) rs1645124235
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del) rs587784448
NM_001048166.1(STIL):c.2058A>C (p.Ala686=) rs981021442
NM_001048166.1(STIL):c.2344_2347del (p.Leu782fs) rs1644859651
NM_001048166.1(STIL):c.2372C>T (p.Ala791Val)
NM_001048166.1(STIL):c.2393T>G (p.Leu798Trp) rs398122976
NM_001048166.1(STIL):c.2488_2489del (p.Asp830fs)
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr) rs201989960
NM_001048166.1(STIL):c.2829+1G>A rs199422206
NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr) rs199422204
NM_001048166.1(STIL):c.2951C>T (p.Thr984Ile) rs587784450
NM_001048166.1(STIL):c.3491A>T (p.Gln1164Leu) rs1644182557
NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)
NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)
NM_001048166.1(STIL):c.3563G>T (p.Gly1188Val) rs1644179901
NM_001048166.1(STIL):c.3579G>A (p.Thr1193=) rs749339741
NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer) rs199422207
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter) rs121918609
NM_001048166.1(STIL):c.384dup (p.His129fs) rs2149199098
NM_001048166.1(STIL):c.417A>G (p.Ile139Met)
NM_001048166.1(STIL):c.443C>T (p.Ser148Leu) rs2149198646
NM_001048166.1(STIL):c.460C>A (p.Gln154Lys) rs1437830511
NM_001048166.1(STIL):c.481G>T (p.Asp161Tyr) rs1645760249
NM_001048166.1(STIL):c.640C>A (p.Leu214Met) rs2149181327
NM_001048166.1(STIL):c.66del (p.Pro23fs) rs1645910850
NM_001048166.1(STIL):c.708T>C (p.Leu236=) rs886046392
NM_001048166.1(STIL):c.731T>G (p.Leu244Trp)
NM_001048166.1(STIL):c.893A>T (p.Asn298Ile) rs562083602
NM_001048166.1(STIL):c.895T>A (p.Phe299Ile) rs587784452

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