ClinVar Miner

List of variants in gene IMPDH1 studied for disorder of orbital region

Included ClinVar conditions (1184):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075 0.26135
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550 0.13918
NM_000883.4(IMPDH1):c.*228G>A rs72624976 0.01836
NM_000883.4(IMPDH1):c.*634C>T rs1803822 0.01623
NM_000883.4(IMPDH1):c.*597G>A rs1803821 0.01620
NM_000883.4(IMPDH1):c.*276C>T rs72624977 0.00426
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010 0.00246
NM_000883.4(IMPDH1):c.1074+6G>T rs61751224 0.00239
NM_000883.4(IMPDH1):c.1074+7C>T rs72624958 0.00237
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg) rs61751223 0.00212
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961 0.00179
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_000883.4(IMPDH1):c.*613T>C rs11549800 0.00123
NM_000883.4(IMPDH1):c.*196C>T rs72624974 0.00106
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00081
NM_000883.4(IMPDH1):c.189A>G (p.Ser63=) rs143796089 0.00063
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000883.4(IMPDH1):c.*102G>T rs541712803 0.00043
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635 0.00040
NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp) rs121912553 0.00038
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957 0.00031
NM_000883.4(IMPDH1):c.*642G>A rs574318258 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_000883.4(IMPDH1):c.*231C>G rs1042267 0.00024
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304 0.00019
NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=) rs201803921 0.00019
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp) rs375914533 0.00017
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln) rs145014241 0.00016
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00013
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=) rs139785999 0.00011
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=) rs373353058 0.00010
NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) rs121912551 0.00006
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met) rs150278198 0.00006
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu) rs763999626 0.00005
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373 0.00005
NM_000883.4(IMPDH1):c.*259G>A rs535964010 0.00004
NM_000883.4(IMPDH1):c.*544G>A rs142941122 0.00004
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=) rs1042250 0.00004
NM_000883.4(IMPDH1):c.634G>A (p.Val212Met) rs1482492681 0.00004
NM_000883.4(IMPDH1):c.*321G>T rs571536404 0.00003
NM_000883.4(IMPDH1):c.1436C>T (p.Thr479Met) rs201001000 0.00003
NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=) rs765536215 0.00003
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873 0.00003
NM_000883.4(IMPDH1):c.1449C>T (p.Gly483=) rs987570514 0.00002
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp) rs756992593 0.00002
NM_000883.4(IMPDH1):c.1694G>A (p.Arg565Gln) rs1797764430 0.00002
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp) rs747314543 0.00002
NM_000883.4(IMPDH1):c.195A>G (p.Leu65=) rs753636717 0.00002
NM_000883.4(IMPDH1):c.255-2A>G rs1238921380 0.00002
NM_000883.4(IMPDH1):c.*258C>T rs886061981 0.00001
NM_000883.4(IMPDH1):c.*631C>T rs760544024 0.00001
NM_000883.4(IMPDH1):c.1031G>A (p.Arg344His) rs1238910577 0.00001
NM_000883.4(IMPDH1):c.1056C>T (p.Gly352=) rs779143637 0.00001
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) rs564132747 0.00001
NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=) rs368622318 0.00001
NM_000883.4(IMPDH1):c.255-10C>T rs1478038443 0.00001
NM_000883.4(IMPDH1):c.281G>T (p.Gly94Val) rs1192233271 0.00001
NM_000883.4(IMPDH1):c.354C>T (p.Asn118=) rs1798504836 0.00001
NM_000883.4(IMPDH1):c.598A>G (p.Ile200Val) rs1798254254 0.00001
NM_000883.4(IMPDH1):c.799A>G (p.Arg267Gly) rs751763023 0.00001
NM_000883.4(IMPDH1):c.862C>T (p.Arg288Cys) rs144929093 0.00001
NM_000883.4(IMPDH1):c.875-16C>G rs767333304 0.00001
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*130A>G rs1797626715
NM_000883.4(IMPDH1):c.*137G>C rs72624973
NM_000883.4(IMPDH1):c.*168G>A rs531478376
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>A rs543042380
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*223C>T rs543042380
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.*321G>A rs571536404
NM_000883.4(IMPDH1):c.*410G>A rs530960760
NM_000883.4(IMPDH1):c.1048C>A (p.Gln350Lys)
NM_000883.4(IMPDH1):c.1075-3C>T rs1797968829
NM_000883.4(IMPDH1):c.1175C>T (p.Ala392Val)
NM_000883.4(IMPDH1):c.1242C>T (p.Ser414=)
NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)
NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)
NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)
NM_000883.4(IMPDH1):c.1433C>G (p.Thr478Ser) rs564132747
NM_000883.4(IMPDH1):c.1435A>G (p.Thr479Ala)
NM_000883.4(IMPDH1):c.1474C>T (p.Arg492Trp)
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser) rs367951647
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) rs1312955440
NM_000883.4(IMPDH1):c.1650A>G (p.Gln550=)
NM_000883.4(IMPDH1):c.1695-11C>T rs1797754885
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.1778+5G>A rs1797745177
NM_000883.4(IMPDH1):c.1779-1G>T
NM_000883.4(IMPDH1):c.192del (p.Glu64fs)
NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)
NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys) rs1798694612
NM_000883.4(IMPDH1):c.297C>G (p.Pro99=)
NM_000883.4(IMPDH1):c.402+1G>T rs1562998089
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp) rs376769056
NM_000883.4(IMPDH1):c.547G>C (p.Glu183Gln)
NM_000883.4(IMPDH1):c.590_591inv (p.Gln197Pro)
NM_000883.4(IMPDH1):c.593G>T (p.Gly198Val) rs1798254661
NM_000883.4(IMPDH1):c.659T>A (p.Met220Lys)
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala) rs979315605
NM_000883.4(IMPDH1):c.698G>C (p.Gly233Ala) rs1272549405
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=) rs757423102
NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)
NM_000883.4(IMPDH1):c.809_810delinsGT (p.Leu270Arg) rs1798216037
NM_000883.4(IMPDH1):c.810G>T (p.Leu270=)
NM_000883.4(IMPDH1):c.826G>T (p.Gly276Cys)
NM_000883.4(IMPDH1):c.848A>G (p.Asn283Ser)
NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys) rs121912554
NM_000883.4(IMPDH1):c.868A>G (p.Lys290Glu)
NM_000883.4(IMPDH1):c.870G>A (p.Lys290=)
NM_000883.4(IMPDH1):c.925C>G (p.Arg309Gly)
NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) rs121912552
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del) rs1554414710
NM_000883.4(IMPDH1):c.939_940insTTC (p.Lys313_Lys314insPhe) rs1798090918
NM_000883.4(IMPDH1):c.940A>G (p.Lys314Glu) rs998758838
NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn) rs1798090540
NM_000883.4(IMPDH1):c.943A>T (p.Asn315Tyr) rs1798090339
NM_000883.4(IMPDH1):c.945C>G (p.Asn315Lys) rs1042253
NM_000883.4(IMPDH1):c.947G>A (p.Arg316Gln) rs1798089372
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr) rs1798086782
NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg) rs1798086782
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His) rs1584727989
NM_000883.4(IMPDH1):c.984G>C (p.Gln328His) rs886037911
NM_000883.4(IMPDH1):c.984GCT[3] (p.Leu330dup) rs1798084798

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