ClinVar Miner

List of variants reported as uncertain significance for Greig cephalopolysyndactyly syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.*265A>C rs201493390 0.08079
NM_000168.6(GLI3):c.*248T>A rs61091998 0.04248
NM_000168.6(GLI3):c.*2517G>A rs568690074 0.00153
NM_000168.6(GLI3):c.*2666G>A rs117987369 0.00142
NM_000168.6(GLI3):c.*3309C>A rs553151369 0.00081
NM_000168.6(GLI3):c.*2620C>G rs56158069 0.00058
NM_000168.6(GLI3):c.*386A>G rs951401550 0.00024
NM_000168.6(GLI3):c.-105A>G rs945082850 0.00014
NM_000168.6(GLI3):c.*1332C>T rs761351887 0.00013
NM_000168.6(GLI3):c.*185G>A rs531678760 0.00011
NM_000168.6(GLI3):c.*2465G>C rs886062314 0.00011
NM_000168.6(GLI3):c.*66G>T rs886062334 0.00011
NM_000168.6(GLI3):c.*974T>A rs886062328 0.00011
NM_000168.6(GLI3):c.*2276T>C rs568393106 0.00007
NM_000168.6(GLI3):c.*2676C>T rs886062312 0.00007
NM_000168.6(GLI3):c.*1263C>T rs886062324 0.00006
NM_000168.6(GLI3):c.*3369C>A rs886062310 0.00006
NM_000168.6(GLI3):c.*1780C>T rs886062319 0.00004
NM_000168.6(GLI3):c.1540G>A (p.Val514Met) rs148502119 0.00004
NM_000168.6(GLI3):c.2740G>A (p.Gly914Ser) rs147004305 0.00004
NM_000168.6(GLI3):c.*1386A>G rs886062322 0.00003
NM_000168.6(GLI3):c.*2257A>T rs886062316 0.00003
NM_000168.6(GLI3):c.1066T>C (p.Ser356Pro) rs371057761 0.00003
NM_000168.6(GLI3):c.*1007G>A rs886062327 0.00002
NM_000168.6(GLI3):c.*1470A>C rs1156419367 0.00002
NM_000168.6(GLI3):c.*165A>G rs886062333 0.00002
NM_000168.6(GLI3):c.*1366C>T rs886062323 0.00001
NM_000168.6(GLI3):c.*1399T>C rs1160002644 0.00001
NM_000168.6(GLI3):c.*2089G>A rs865942966 0.00001
NM_000168.6(GLI3):c.*2176G>C rs1486012871 0.00001
NM_000168.6(GLI3):c.*2508G>C rs886062313 0.00001
NM_000168.6(GLI3):c.*3002A>G rs1484040578 0.00001
NM_000168.6(GLI3):c.*311T>A rs1189349323 0.00001
NM_000168.6(GLI3):c.*889T>C rs1318388633 0.00001
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr) rs375277249 0.00001
NM_000168.6(GLI3):c.1845T>C (p.Thr615=) rs373687877 0.00001
NM_000168.6(GLI3):c.1958C>T (p.Pro653Leu) rs141220299 0.00001
NM_000168.6(GLI3):c.2004G>A (p.Pro668=) rs867192725 0.00001
NM_000168.6(GLI3):c.21C>T (p.Ser7=) rs770954230 0.00001
NM_000168.6(GLI3):c.2375G>A (p.Arg792Gln) rs546878700 0.00001
NM_000168.6(GLI3):c.2412C>G (p.Val804=) rs761829250 0.00001
NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg) rs752838669 0.00001
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn) rs750790986 0.00001
NM_000168.6(GLI3):c.3278C>T (p.Pro1093Leu) rs777149082 0.00001
NM_000168.6(GLI3):c.3786A>G (p.Pro1262=) rs368450304 0.00001
NM_000168.6(GLI3):c.4590C>T (p.Asn1530=) rs886062335 0.00001
NM_000168.6(GLI3):c.681G>A (p.Ala227=) rs752998397 0.00001
NM_000168.6(GLI3):c.*1027C>T rs886062326
NM_000168.6(GLI3):c.*1239T>A rs886062325
NM_000168.6(GLI3):c.*1471C>T rs886062321
NM_000168.6(GLI3):c.*1553T>G rs1787043241
NM_000168.6(GLI3):c.*1688C>G rs886062320
NM_000168.6(GLI3):c.*1858C>T rs886062318
NM_000168.6(GLI3):c.*2146_*2150del rs774204684
NM_000168.6(GLI3):c.*2216T>C rs886062317
NM_000168.6(GLI3):c.*2358del rs144064690
NM_000168.6(GLI3):c.*2419T>C rs886062315
NM_000168.6(GLI3):c.*248del rs5883809
NM_000168.6(GLI3):c.*248dup rs5883809
NM_000168.6(GLI3):c.*2612A>G rs1583724689
NM_000168.6(GLI3):c.*266_*267insA rs1554304160
NM_000168.6(GLI3):c.*2744T>G rs1050141162
NM_000168.6(GLI3):c.*2861T>G rs1787010195
NM_000168.6(GLI3):c.*3094T>C rs886062311
NM_000168.6(GLI3):c.*333A>G rs1787080355
NM_000168.6(GLI3):c.*512C>T rs886062330
NM_000168.6(GLI3):c.*589T>C rs886062329
NM_000168.6(GLI3):c.*73C>T rs1787093147
NM_000168.6(GLI3):c.-3A>G rs886062340
NM_000168.6(GLI3):c.-47C>T rs886062341
NM_000168.6(GLI3):c.-78G>T rs886062342
NM_000168.6(GLI3):c.-83C>T rs886062343
NM_000168.6(GLI3):c.1648-7T>A rs1787547025
NM_000168.6(GLI3):c.1957C>T (p.Pro653Ser) rs1787391168
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln) rs373643864
NM_000168.6(GLI3):c.3065C>T (p.Pro1022Leu) rs780814828
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) rs772839719
NM_000168.6(GLI3):c.353T>C (p.Met118Thr) rs886062339
NM_000168.6(GLI3):c.4016G>T (p.Arg1339Leu) rs756685313
NM_000168.6(GLI3):c.4296G>A (p.Leu1432=) rs768735366
NM_000168.6(GLI3):c.4627G>T (p.Ala1543Ser) rs1787101579
NM_000168.6(GLI3):c.641C>T (p.Ser214Phe) rs886062338
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000168.6(GLI3):c.827-6T>C rs886062337

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.