ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Illumina Laboratory Services, Illumina

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_003619.4(PRSS12):c.*1504G>A rs1045817 0.11039
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_003619.4(PRSS12):c.*807G>A rs17516164 0.06175
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_001160372.4(TRAPPC9):c.3279+4C>T rs79877357 0.02434
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_003619.4(PRSS12):c.*672C>T rs72919299 0.01650
NM_003619.4(PRSS12):c.*208C>T rs142775631 0.01464
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_003619.4(PRSS12):c.*1595A>G rs145858385 0.00851
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_003619.4(PRSS12):c.*912G>A rs10212745 0.00737
NM_003619.4(PRSS12):c.1773C>T (p.His591=) rs34131974 0.00712
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_003619.4(PRSS12):c.*1615C>T rs150249635 0.00471
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_003619.4(PRSS12):c.51A>G (p.Glu17=) rs144853134 0.00447
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211 0.00371
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016042.4(EXOSC3):c.*881A>G rs143319153 0.00332
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_006721.4(ADK):c.*740C>T rs150465356 0.00276
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_006721.4(ADK):c.66-24106T>C rs192064997 0.00255
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile) rs62640002 0.00231
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu) rs72903215 0.00212
NM_016042.4(EXOSC3):c.*64C>T rs142727320 0.00209
NM_006721.4(ADK):c.*375A>G rs185021662 0.00206
NM_017755.6(NSUN2):c.-13G>C rs558458633 0.00181
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
NM_017755.6(NSUN2):c.*17G>A rs201903423 0.00160
NM_017755.6(NSUN2):c.222C>T (p.Leu74=) rs138716662 0.00159
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_003619.4(PRSS12):c.*574A>G rs191638317 0.00147
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016042.4(EXOSC3):c.*555A>C rs188744146 0.00133
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly) rs114878910 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_003619.4(PRSS12):c.645A>G (p.Gly215=) rs140470579 0.00116
NM_003619.4(PRSS12):c.966C>T (p.Gly322=) rs144866250 0.00116
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=) rs146650218 0.00081
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile) rs138169215 0.00077
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe) rs139734064 0.00059
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg) rs149244771 0.00051
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_017755.6(NSUN2):c.258C>T (p.His86=) rs141912087 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_001160372.4(TRAPPC9):c.2557-14T>A rs757482428 0.00041
NM_003619.4(PRSS12):c.*764A>G rs11098431 0.00041
NM_017755.6(NSUN2):c.1226+4A>T rs202085420 0.00041
NM_003619.4(PRSS12):c.*920G>C rs567789007 0.00040
NM_016042.4(EXOSC3):c.*954G>A rs530895640 0.00039
NM_016042.4(EXOSC3):c.*795A>G rs558579097 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu) rs142551296 0.00036
NM_001160372.4(TRAPPC9):c.3055+11G>A rs374709193 0.00034
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_017755.6(NSUN2):c.1602-14G>C rs771558713 0.00034
NM_016042.4(EXOSC3):c.-11T>C rs373191549 0.00033
NM_017755.6(NSUN2):c.*389A>G rs780214753 0.00033
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu) rs149661915 0.00031
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr) rs140568381 0.00031
NM_001160372.4(TRAPPC9):c.2556+11A>G rs201489589 0.00029
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val) rs146362932 0.00026
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_006721.4(ADK):c.429C>T (p.Cys143=) rs142477111 0.00024
NM_003619.4(PRSS12):c.*1865T>C rs183712097 0.00023
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_016042.4(EXOSC3):c.*847T>A rs566642894 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_017755.6(NSUN2):c.486A>G (p.Glu162=) rs147958833 0.00022
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=) rs1055478673 0.00021
NM_017755.6(NSUN2):c.*16C>T rs368107079 0.00020
NM_003619.4(PRSS12):c.1490-15T>C rs746343292 0.00019
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg) rs139833696 0.00019
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp) rs140467698 0.00019
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln) rs138640682 0.00018
NM_003619.4(PRSS12):c.*1141T>C rs574310044 0.00017
NM_006721.4(ADK):c.*349T>C rs896781492 0.00016
NM_016219.5(MAN1B1):c.*553A>G rs754678273 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_003619.4(PRSS12):c.*233G>C rs886059032 0.00015
NM_003619.4(PRSS12):c.*1143C>T rs987189753 0.00014
NM_003619.4(PRSS12):c.*221A>T rs774121509 0.00014
NM_003619.4(PRSS12):c.669G>A (p.Pro223=) rs151271524 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_017755.6(NSUN2):c.*140T>C rs564014439 0.00014
NM_003619.4(PRSS12):c.2088T>C (p.His696=) rs141365421 0.00013
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp) rs575361734 0.00013
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_017755.6(NSUN2):c.*294C>G rs886060727 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=) rs150785220 0.00013
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser) rs763793795 0.00012
NM_003619.4(PRSS12):c.*604A>C rs551930250 0.00011
NM_016042.4(EXOSC3):c.*402C>T rs567641975 0.00011
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg) rs372680556 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_003619.4(PRSS12):c.2320+6G>C rs369283461 0.00010
NM_016042.4(EXOSC3):c.*63T>G rs753180747 0.00010
NM_017755.6(NSUN2):c.1458T>C (p.His486=) rs200925761 0.00010
NM_001160372.4(TRAPPC9):c.2556+7T>G rs185632960 0.00009
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val) rs375624381 0.00009
NM_016042.4(EXOSC3):c.*611A>G rs939514834 0.00008
NM_017755.6(NSUN2):c.*202C>T rs932103254 0.00008
NM_017755.6(NSUN2):c.*622T>A rs757183970 0.00008
NM_003619.4(PRSS12):c.*1660T>C rs372099887 0.00007
NM_003619.4(PRSS12):c.936C>T (p.Ala312=) rs12505679 0.00007
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_003384.3(VRK1):c.*107A>G rs375987917 0.00006
NM_003384.3(VRK1):c.161-3C>T rs746546400 0.00006
NM_006721.4(ADK):c.66-23885T>A rs370191448 0.00006
NM_006721.4(ADK):c.66-23966T>C rs886047235 0.00006
NM_016219.5(MAN1B1):c.*113G>A rs762819985 0.00006
NM_016219.5(MAN1B1):c.*86C>T rs771691552 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln) rs754704006 0.00005
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys) rs753768799 0.00005
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_017755.6(NSUN2):c.*48C>T rs374381984 0.00005
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln) rs756450204 0.00005
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala) rs373798103 0.00005
NM_001160372.4(TRAPPC9):c.2811-4G>A rs374826041 0.00004
NM_003384.3(VRK1):c.-11C>T rs1055946372 0.00004
NM_003619.4(PRSS12):c.*800G>A rs1368772207 0.00004
NM_003619.4(PRSS12):c.177G>A (p.Pro59=) rs746966869 0.00004
NM_003619.4(PRSS12):c.1916+11C>T rs775761093 0.00004
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=) rs138882049 0.00004
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter) rs751423861 0.00004
NM_003619.4(PRSS12):c.890A>G (p.His297Arg) rs756685819 0.00004
NM_006721.4(ADK):c.*296G>A rs527621742 0.00004
NM_016219.5(MAN1B1):c.*191G>A rs1035235945 0.00004
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala) rs369551783 0.00004
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val) rs752395239 0.00004
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) rs575503145 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_017755.6(NSUN2):c.1022-3C>T rs370183139 0.00004
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met) rs369917766 0.00003
NM_003619.4(PRSS12):c.1837+1G>A rs201470712 0.00003
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter) rs1205071832 0.00003
NM_006721.4(ADK):c.259A>G (p.Ile87Val) rs201734294 0.00003
NM_016219.5(MAN1B1):c.*62A>G rs963031485 0.00003
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln) rs765008747 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn) rs376305905 0.00003
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr) rs766301739 0.00003
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser) rs140003855 0.00003
NM_017755.6(NSUN2):c.914G>A (p.Arg305His) rs368030963 0.00003
NM_003619.4(PRSS12):c.*1573G>A rs931601172 0.00002
NM_006721.4(ADK):c.*337T>G rs886047238 0.00002
NM_016042.4(EXOSC3):c.*194G>C rs886063933 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016219.5(MAN1B1):c.*259G>A rs886063732 0.00002
NM_016219.5(MAN1B1):c.*489G>A rs572418621 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) rs779234844 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly) rs762093598 0.00002
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=) rs752702755 0.00002
NM_017755.6(NSUN2):c.255-4A>G rs201837443 0.00002
NM_003384.3(VRK1):c.*281G>A rs1889257279 0.00001
NM_003384.3(VRK1):c.*302T>C rs1294884447 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003619.4(PRSS12):c.*1435A>G rs1247361243 0.00001
NM_003619.4(PRSS12):c.*1499A>G rs748542086 0.00001
NM_003619.4(PRSS12):c.*658C>T rs549172615 0.00001
NM_003619.4(PRSS12):c.*904A>T rs1025703450 0.00001
NM_003619.4(PRSS12):c.-10C>T rs559605488 0.00001
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys) rs139059047 0.00001
NM_003619.4(PRSS12):c.1293-10A>G rs374374471 0.00001
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu) rs937952328 0.00001
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe) rs377739049 0.00001
NM_003619.4(PRSS12):c.315C>T (p.Phe105=) rs776809807 0.00001
NM_003619.4(PRSS12):c.518G>A (p.Arg173His) rs764862487 0.00001
NM_003619.4(PRSS12):c.821-12C>G rs373973695 0.00001
NM_006721.4(ADK):c.*114T>C rs560409958 0.00001
NM_006721.4(ADK):c.*729T>G rs1307744498 0.00001
NM_006721.4(ADK):c.220A>G (p.Lys74Glu) rs201786575 0.00001
NM_006721.4(ADK):c.66-24009G>T rs886047234 0.00001
NM_006721.4(ADK):c.66-24289G>A rs571962706 0.00001
NM_006721.4(ADK):c.763-9T>C rs780824505 0.00001
NM_016042.4(EXOSC3):c.*312T>G rs1044154281 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016219.5(MAN1B1):c.*389C>G rs1489403973 0.00001
NM_016219.5(MAN1B1):c.*404T>C rs759863657 0.00001
NM_016219.5(MAN1B1):c.*587C>G rs946716926 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe) rs776658507 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) rs1430903884 0.00001
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=) rs151136979 0.00001
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser) rs573766677 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_017755.6(NSUN2):c.*85G>A rs1429279900 0.00001
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg) rs375923267 0.00001
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter) rs886060728 0.00001
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly) rs373663619 0.00001
NM_001160372.4(TRAPPC9):c.1496-3C>T rs942972668
NM_001160372.4(TRAPPC9):c.3280-8C>G rs752940904
NM_001160372.4(TRAPPC9):c.584+1G>A rs1292031022
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs) rs886062727
NM_003384.3(VRK1):c.*104A>G rs1889251007
NM_003384.3(VRK1):c.*171C>A rs1889253340
NM_003384.3(VRK1):c.*211A>G rs886050949
NM_003384.3(VRK1):c.*338A>G rs1889259011
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs) rs749258908
NM_003384.3(VRK1):c.374+11G>A rs937625087
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys) rs541660707
NM_003619.4(PRSS12):c.*1431C>T rs548846144
NM_003619.4(PRSS12):c.*1577A>G rs1742810283
NM_003619.4(PRSS12):c.*1699T>C rs886059024
NM_003619.4(PRSS12):c.*260C>T rs886059031
NM_003619.4(PRSS12):c.*263A>G rs957795451
NM_003619.4(PRSS12):c.*278T>A rs886059030
NM_003619.4(PRSS12):c.*526T>A rs886059029
NM_003619.4(PRSS12):c.*531C>A rs886059028
NM_003619.4(PRSS12):c.*830C>T rs886059026
NM_003619.4(PRSS12):c.*839T>C rs1343646133
NM_003619.4(PRSS12):c.*842C>G rs886059025
NM_003619.4(PRSS12):c.*849C>T rs1742836402
NM_003619.4(PRSS12):c.*906A>G rs1742834260
NM_003619.4(PRSS12):c.*950A>C rs1314051273
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly) rs1743806508
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter) rs1560774339
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=) rs886059035
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=) rs1743319957
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=) rs886059034
NM_003619.4(PRSS12):c.1917-4T>C rs1743223579
NM_003619.4(PRSS12):c.195C>T (p.Phe65=) rs1671147684
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser) rs371384574
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly) rs369577707
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His) rs558433873
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg) rs1191488477
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu) rs755655664
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp) rs72677056
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn) rs1723924890
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu) rs1723924725
NM_006721.4(ADK):c.*157G>A rs886047237
NM_006721.4(ADK):c.441C>T (p.Asp147=) rs886047236
NM_006721.4(ADK):c.494A>C (p.Lys165Thr) rs1219524919
NM_006721.4(ADK):c.66-23967G>T rs1842356778
NM_006721.4(ADK):c.66-24083G>C rs886047233
NM_006721.4(ADK):c.66-24133G>A rs1036870011
NM_006721.4(ADK):c.66-24151A>T rs886047232
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.*242A>C rs1828556271
NM_016042.4(EXOSC3):c.*354C>A rs530037792
NM_016042.4(EXOSC3):c.*354C>G rs530037792
NM_016042.4(EXOSC3):c.*419A>G rs1828546518
NM_016042.4(EXOSC3):c.*582A>C rs886063932
NM_016042.4(EXOSC3):c.*812T>G rs886063931
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser) rs549030188
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met) rs145622193
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr) rs758230758
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu) rs140199968
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=) rs774835139
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.731-8C>T rs375902720
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs) rs1190243291
NM_017755.6(NSUN2):c.*532A>G rs1317432691
NM_017755.6(NSUN2):c.*619G>A rs1018606113
NM_017755.6(NSUN2):c.*97C>A rs759455426
NM_017755.6(NSUN2):c.138G>A (p.Lys46=) rs886060729
NM_017755.6(NSUN2):c.1818+4A>G rs1736685253
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met) rs139224594
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser) rs1736479408
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_017755.6(NSUN2):c.615C>A (p.Pro205=) rs773951967
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly) rs1737229372
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr) rs564938323
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464

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.