ClinVar Miner

List of variants in gene IQSEC2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.708-258A>T rs138126527 0.01241
NM_001111125.3(IQSEC2):c.1401+36C>T rs150178370 0.00972
NM_001111125.3(IQSEC2):c.737+191G>A rs60784175 0.00774
NM_001111125.3(IQSEC2):c.737+10291G>A rs189694247 0.00773
NM_001111125.3(IQSEC2):c.737+10705T>C rs142083173 0.00477
NM_001111125.3(IQSEC2):c.2890-213A>G rs186488905 0.00446
NM_001111125.3(IQSEC2):c.738-212G>A rs782512906 0.00411
NM_001111125.3(IQSEC2):c.2750-332T>C rs193250315 0.00410
NM_001111125.3(IQSEC2):c.2583-296C>G rs140424204 0.00408
NM_001111125.3(IQSEC2):c.3016-105T>C rs369997559 0.00364
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602 0.00115
NM_001111125.3(IQSEC2):c.2583-234G>T rs182369896 0.00100
NM_001111125.3(IQSEC2):c.3116-310C>T rs181731337 0.00098
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
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.2890-6G>A rs184248834 0.00025
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) rs782769823 0.00014
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=) rs1216934275 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.4419C>A (p.Pro1473=) rs1354953265 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.2262G>A (p.Arg754=) rs1408670208 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 0.00007
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=) rs782085578 0.00007
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131 0.00005
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.2052C>T (p.Cys684=) rs782132072 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.4206G>A (p.Ala1402=) rs1057521782 0.00004
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252 0.00003
NM_001111125.3(IQSEC2):c.2297+13C>T rs782625023 0.00003
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286 0.00003
NM_001111125.3(IQSEC2):c.2889+10T>C rs1057523665 0.00003
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) rs199643273 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=) rs1057523277 0.00003
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942 0.00003
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr) rs1085307636 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) rs781979737 0.00002
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) rs1556880357 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3278-13G>C rs782674949 0.00002
NM_001111125.3(IQSEC2):c.3278-14C>T rs782292524 0.00002
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843 0.00002
NM_001111125.3(IQSEC2):c.3502-15C>T rs1299191132 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.708-20T>C rs1397654562 0.00002
NM_001111125.3(IQSEC2):c.1339G>A (p.Val447Ile) rs1556864546 0.00001
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=) rs1361283835 0.00001
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=) rs781915467 0.00001
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=) rs2074366023 0.00001
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) rs781978108 0.00001
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=) rs943476072 0.00001
NM_001111125.3(IQSEC2):c.2459+19G>A rs1057522303 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001111125.3(IQSEC2):c.3502-8G>A rs781808329 0.00001
NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr) rs1050525102 0.00001
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=) rs1556859096 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.579C>A (p.Gly193=) rs1556880030 0.00001
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=) rs782524925 0.00001
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759 0.00001
NM_001111125.2(IQSEC2):c.2582+19_2582+29delCGCGAAGCTGCins64
NM_001111125.3(IQSEC2):c.*13G>C rs1057521944
NM_001111125.3(IQSEC2):c.1287G>C (p.Gly429=) rs1556864576
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-11C>G rs187186062
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1402-9del rs781861463
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=) rs1602283885
NM_001111125.3(IQSEC2):c.2013G>T (p.Gly671=) rs1556863095
NM_001111125.3(IQSEC2):c.2297+7G>A rs1556862951
NM_001111125.3(IQSEC2):c.2298-10C>T rs1057523662
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.3016-242A>G rs146633237
NM_001111125.3(IQSEC2):c.3452-163_3452-161del rs199609782
NM_001111125.3(IQSEC2):c.3452-40del rs782107172
NM_001111125.3(IQSEC2):c.3452-46G>C rs188161608
NM_001111125.3(IQSEC2):c.3564G>C (p.Pro1188=) rs1489138425
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3849C>G (p.Leu1283=) rs1556859155
NM_001111125.3(IQSEC2):c.4039G>A (p.Ala1347Thr) rs2074097651
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=) rs1214109386
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=) rs1556859017
NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=) rs1452805840
NM_001111125.3(IQSEC2):c.504C>G (p.Arg168=) rs1556880099
NM_001111125.3(IQSEC2):c.567G>A (p.Ser189=) rs782020682
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.598C>G (p.Arg200Gly) rs1602382928
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
NM_001111125.3(IQSEC2):c.999+11G>A rs1602293293

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