ClinVar Miner

List of variants in gene IQSEC2 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933 0.00033
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625 0.00028
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala) rs782469479 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.326A>G (p.Gln109Arg) rs781898764 0.00007
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644 0.00005
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val) rs1003745171 0.00005
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=) rs371815225 0.00004
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=) rs782668223 0.00004
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=) rs191305900 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001111125.3(IQSEC2):c.3939C>T (p.Ala1313=) rs1473963072 0.00004
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn) rs782244422 0.00003
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) rs1556880350 0.00003
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=) rs1057523277 0.00003
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=) rs1198105155 0.00003
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.708-3C>T rs781873807 0.00002
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala) rs1556865202 0.00002
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=) rs781915467 0.00001
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=) rs781942714 0.00001
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) rs781978108 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met) rs1347714754 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=) rs923484172 0.00001
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg) rs368559547 0.00001
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759 0.00001
NM_001111125.3(IQSEC2):c.-4C>T
NM_001111125.3(IQSEC2):c.1017G>T (p.Arg339Ser)
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
NM_001111125.3(IQSEC2):c.1301G>C (p.Gly434Ala)
NM_001111125.3(IQSEC2):c.1372A>G (p.Thr458Ala)
NM_001111125.3(IQSEC2):c.1438A>C (p.Asn480His)
NM_001111125.3(IQSEC2):c.1484A>G (p.Gln495Arg)
NM_001111125.3(IQSEC2):c.1704T>C (p.Arg568=) rs1569302421
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln) rs2074375518
NM_001111125.3(IQSEC2):c.1925C>G (p.Pro642Arg)
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer) rs797044889
NM_001111125.3(IQSEC2):c.2059G>T (p.Ala687Ser)
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=) rs1569300762
NM_001111125.3(IQSEC2):c.2513G>A (p.Arg838Gln) rs2074336085
NM_001111125.3(IQSEC2):c.2582+3G>T rs782493529
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr) rs797044932
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu) rs2074253394
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His) rs1556860937
NM_001111125.3(IQSEC2):c.2949T>C (p.Asp983=)
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val) rs2074165930
NM_001111125.3(IQSEC2):c.31C>T (p.Pro11Ser) rs1569342169
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro) rs782632137
NM_001111125.3(IQSEC2):c.3212G>A (p.Arg1071His)
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
NM_001111125.3(IQSEC2):c.3227T>C (p.Leu1076Pro)
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
NM_001111125.3(IQSEC2):c.3462G>C (p.Gly1154=) rs1569292427
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
NM_001111125.3(IQSEC2):c.3621C>T (p.Ser1207=)
NM_001111125.3(IQSEC2):c.3766G>A (p.Val1256Met)
NM_001111125.3(IQSEC2):c.3825G>C (p.Pro1275=) rs1057523277
NM_001111125.3(IQSEC2):c.3837G>C (p.Pro1279=)
NM_001111125.3(IQSEC2):c.3840A>C (p.Pro1280=)
NM_001111125.3(IQSEC2):c.3859C>T (p.Gln1287Ter)
NM_001111125.3(IQSEC2):c.4002T>A (p.Tyr1334Ter)
NM_001111125.3(IQSEC2):c.4063C>T (p.Pro1355Ser)
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr) rs1556859050
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser) rs1556859040
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His) rs1569291207
NM_001111125.3(IQSEC2):c.4310A>G (p.Tyr1437Cys)
NM_001111125.3(IQSEC2):c.4343C>T (p.Pro1448Leu)
NM_001111125.3(IQSEC2):c.4368C>T (p.Ser1456=)
NM_001111125.3(IQSEC2):c.565T>G (p.Ser189Ala)
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
NM_001243197.2(IQSEC2):c.13G>A (p.Gly5Arg)

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.