List of variants in gene STIL reported as uncertain significance for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001048166.1(STIL):c.1024-4T>C	rs188900275	0.00229
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)	rs144746030	0.00220
NM_001048166.1(STIL):c.1069G>A (p.Ala357Thr)	rs75426387	0.00194
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.3156C>T (p.Ser1052=)	rs113337758	0.00043
NM_001048166.1(STIL):c.467A>G (p.His156Arg)	rs141352790	0.00038
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.152+4T>C	rs368201717	0.00029
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)	rs144586803	0.00022
NM_001048166.1(STIL):c.227C>T (p.Ser76Leu)	rs147160336	0.00019
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.2938A>G (p.Thr980Ala)	rs78932355	0.00011
NM_001048166.1(STIL):c.92G>A (p.Cys31Tyr)	rs757442081	0.00011
NM_001048166.1(STIL):c.199C>T (p.Arg67Cys)	rs542287422	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.2259C>G (p.Ser753=)	rs774035449	0.00008
NM_001048166.1(STIL):c.2491A>G (p.Ile831Val)	rs569374620	0.00006
NM_001048166.1(STIL):c.2676G>C (p.Gln892His)	rs200995168	0.00006
NM_001048166.1(STIL):c.267T>A (p.Asp89Glu)	rs766925193	0.00006
NM_001048166.1(STIL):c.2366G>A (p.Ser789Asn)	rs375099543	0.00005
NM_001048166.1(STIL):c.614A>G (p.Lys205Arg)	rs148947235	0.00005
NM_001048166.1(STIL):c.1227T>C (p.Ser409=)	rs200532713	0.00004
NM_001048166.1(STIL):c.1588C>T (p.Pro530Ser)	rs765984208	0.00004
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	rs201448287	0.00004
NM_001048166.1(STIL):c.290T>C (p.Val97Ala)	rs886043449	0.00004
NM_001048166.1(STIL):c.2918G>A (p.Arg973Lys)	rs759013025	0.00004
NM_001048166.1(STIL):c.3839G>A (p.Arg1280His)	rs372680224	0.00004
NM_001048166.1(STIL):c.887C>T (p.Ser296Phe)	rs140282820	0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	rs770213403	0.00004
NM_001048166.1(STIL):c.2350A>T (p.Met784Leu)	rs368689118	0.00003
NM_001048166.1(STIL):c.2487C>T (p.Val829=)	rs536823173	0.00003
NM_001048166.1(STIL):c.2936A>C (p.His979Pro)	rs561250909	0.00003
NM_001048166.1(STIL):c.3010A>G (p.Arg1004Gly)	rs370465985	0.00003
NM_001048166.1(STIL):c.1134G>A (p.Arg378=)	rs1240263164	0.00001
NM_001048166.1(STIL):c.1231C>A (p.His411Asn)	rs746778024	0.00001
NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr)	rs888258532	0.00001
NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu)	rs754626458	0.00001
NM_001048166.1(STIL):c.2026C>T (p.Pro676Ser)	rs768338718	0.00001
NM_001048166.1(STIL):c.215A>G (p.Asn72Ser)	rs773511706	0.00001
NM_001048166.1(STIL):c.2225G>A (p.Arg742His)	rs867409389	0.00001
NM_001048166.1(STIL):c.2310G>A (p.Glu770=)	rs1449075315	0.00001
NM_001048166.1(STIL):c.2542G>A (p.Val848Ile)	rs587784449	0.00001
NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile)	rs745904390	0.00001
NM_001048166.1(STIL):c.2755C>T (p.Pro919Ser)	rs758155704	0.00001
NM_001048166.1(STIL):c.2784G>C (p.Leu928Phe)	rs752089431	0.00001
NM_001048166.1(STIL):c.3113T>G (p.Ile1038Ser)	rs758472003	0.00001
NM_001048166.1(STIL):c.3257C>T (p.Ser1086Leu)	rs190918041	0.00001
NM_001048166.1(STIL):c.3434A>G (p.Asn1145Ser)	rs1271368812	0.00001
NM_001048166.1(STIL):c.36G>A (p.Met12Ile)	rs587784451	0.00001
NM_001048166.1(STIL):c.3714C>T (p.Phe1238=)	rs398123691	0.00001
NM_001048166.1(STIL):c.3752C>T (p.Thr1251Ile)	rs1390893324	0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)	rs199634446	0.00001
NM_001048166.1(STIL):c.440G>A (p.Ser147Asn)	rs763148843	0.00001
NM_001048166.1(STIL):c.653T>G (p.Leu218Trp)	rs1236526270	0.00001
NC_000001.10:g.(?_47716808)_(47728805_?)dup
NM_001048166.1(STIL):c.1013A>C (p.His338Pro)
NM_001048166.1(STIL):c.118G>A (p.Gly40Arg)
NM_001048166.1(STIL):c.1403A>G (p.Gln468Arg)
NM_001048166.1(STIL):c.1521_1522delinsCT (p.Gln507_Pro508delinsHisSer)	rs2148975786
NM_001048166.1(STIL):c.1654C>G (p.Pro552Ala)
NM_001048166.1(STIL):c.1733C>A (p.Pro578His)	rs1280236640
NM_001048166.1(STIL):c.1733C>T (p.Pro578Leu)
NM_001048166.1(STIL):c.1778C>G (p.Pro593Arg)	rs777711384
NM_001048166.1(STIL):c.177G>C (p.Glu59Asp)	rs2149205654
NM_001048166.1(STIL):c.1853A>G (p.Asn618Ser)
NM_001048166.1(STIL):c.1991C>T (p.Ala664Val)
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)	rs587784448
NM_001048166.1(STIL):c.2070A>T (p.Ser690=)	rs367887740
NM_001048166.1(STIL):c.2218A>G (p.Ile740Val)	rs957455746
NM_001048166.1(STIL):c.2242T>C (p.Ser748Pro)
NM_001048166.1(STIL):c.2360G>C (p.Gly787Ala)
NM_001048166.1(STIL):c.2383+5T>C
NM_001048166.1(STIL):c.2416G>A (p.Asp806Asn)
NM_001048166.1(STIL):c.2452A>G (p.Thr818Ala)	rs1279650779
NM_001048166.1(STIL):c.2554A>G (p.Ser852Gly)
NM_001048166.1(STIL):c.2769T>A (p.His923Gln)	rs1644527858
NM_001048166.1(STIL):c.3100C>A (p.Pro1034Thr)
NM_001048166.1(STIL):c.3615G>T (p.Gln1205His)
NM_001048166.1(STIL):c.3640G>A (p.Glu1214Lys)
NM_001048166.1(STIL):c.3695G>A (p.Arg1232Gln)
NM_001048166.1(STIL):c.571G>A (p.Ala191Thr)
NM_001048166.1(STIL):c.724C>T (p.Arg242Cys)
NM_001048166.1(STIL):c.746A>G (p.Glu249Gly)
NM_001048166.1(STIL):c.810C>G (p.Ile270Met)	rs2149111347
NM_001048166.1(STIL):c.856TCT[1] (p.Ser287del)	rs886042187
NM_001048166.1(STIL):c.866A>C (p.Gln289Pro)
NM_001048166.1(STIL):c.873-3C>G	rs1553178546
NM_001048166.1(STIL):c.873-6G>T	rs375670720
NM_001048166.1(STIL):c.916A>G (p.Met306Val)
NM_001048166.1(STIL):c.923_924delinsTA (p.His308Leu)

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.