ClinVar Miner

List of variants reported as likely benign for adenosine monophosphate deaminase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001025389.2(AMPD3):c.553C>T (p.Arg185Trp) rs11042836 0.05626
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_001025389.2(AMPD3):c.669C>T (p.His223=) rs34319136 0.02210
NM_001025389.2(AMPD3):c.1674C>T (p.Tyr558=) rs114718879 0.01986
NM_001025389.2(AMPD3):c.1131C>T (p.His377=) rs76407515 0.01030
NM_001025389.2(AMPD3):c.1081G>A (p.Gly361Ser) rs75286033 0.01024
NM_001025389.2(AMPD3):c.960G>A (p.Ala320=) rs75283041 0.00523
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_000036.3(AMPD1):c.767+18C>A rs146422068 0.00084
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000036.3(AMPD1):c.216-9C>T rs570832252 0.00040
NM_000036.3(AMPD1):c.1975-12A>T rs189530823 0.00036
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=) rs141900642 0.00025
NM_000036.3(AMPD1):c.22+15T>A rs371487865 0.00022
NM_000036.3(AMPD1):c.1800+16T>C rs374741261 0.00019
NM_000036.3(AMPD1):c.1974+9T>C rs368331901 0.00009
NM_000036.2(AMPD1):c.24T>C (p.Ser8=) rs377496676 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000036.3(AMPD1):c.1092+12C>T rs532506042 0.00006
NM_000036.3(AMPD1):c.1389-16T>A rs778223264 0.00006
NM_000036.3(AMPD1):c.990G>T (p.Val330=) rs754808704 0.00005
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=) rs369767517 0.00004
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=) rs145557954 0.00004
NM_000036.3(AMPD1):c.504C>T (p.Asn168=) rs374681411 0.00004
NM_000036.3(AMPD1):c.636C>T (p.Asp212=) rs181412206 0.00004
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=) rs141829342 0.00003
NM_000036.3(AMPD1):c.1800+15C>G rs570359428 0.00003
NM_000036.3(AMPD1):c.801C>G (p.Leu267=) rs536037850 0.00003
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) rs145786786 0.00002
NM_000036.3(AMPD1):c.2086-11T>C rs571218978 0.00002
NM_000036.3(AMPD1):c.216-8G>A rs762655218 0.00002
NM_000036.3(AMPD1):c.906C>T (p.Thr302=) rs1013897127 0.00002
NM_000036.3(AMPD1):c.1225-12T>C rs762334770 0.00001
NM_000036.3(AMPD1):c.1388+10T>C rs760486294 0.00001
NM_000036.3(AMPD1):c.1662G>T (p.Val554=) rs780245321 0.00001
NM_000036.3(AMPD1):c.1680-20T>C rs771812174 0.00001
NM_000036.3(AMPD1):c.1743T>C (p.His581=) rs768544368 0.00001
NM_000036.3(AMPD1):c.180T>C (p.His60=) rs897295422 0.00001
NM_000036.3(AMPD1):c.1971C>G (p.Thr657=) rs756521034 0.00001
NM_000036.3(AMPD1):c.2086-19C>T rs1335023656 0.00001
NM_000036.3(AMPD1):c.215+8G>A rs781556684 0.00001
NM_000036.3(AMPD1):c.216-5C>T rs553915536 0.00001
NM_000036.3(AMPD1):c.510T>C (p.Asp170=) rs772153823 0.00001
NM_000036.3(AMPD1):c.687T>C (p.Pro229=) rs748174102 0.00001
NM_000036.2(AMPD1):c.9C>T (p.Val3=) rs748160625
NM_000036.3(AMPD1):c.-31T>C
NM_000036.3(AMPD1):c.1092+12C>G rs532506042
NM_000036.3(AMPD1):c.1093-12T>A
NM_000036.3(AMPD1):c.1093-12T>C
NM_000036.3(AMPD1):c.1093-13T>C rs1657920976
NM_000036.3(AMPD1):c.1093-5T>C
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=) rs566349141
NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=)
NM_000036.3(AMPD1):c.117C>T (p.Ser39=)
NM_000036.3(AMPD1):c.1188T>C (p.Asn396=) rs532589702
NM_000036.3(AMPD1):c.120C>G (p.Pro40=)
NM_000036.3(AMPD1):c.1224+15A>G
NM_000036.3(AMPD1):c.1225-13C>A
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)
NM_000036.3(AMPD1):c.1388+14C>T
NM_000036.3(AMPD1):c.1388+15A>G
NM_000036.3(AMPD1):c.1388+8C>A
NM_000036.3(AMPD1):c.1389-13T>C
NM_000036.3(AMPD1):c.1389-15C>A
NM_000036.3(AMPD1):c.1389-5T>C
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=)
NM_000036.3(AMPD1):c.1515+20C>A rs751358383
NM_000036.3(AMPD1):c.1515+7A>G
NM_000036.3(AMPD1):c.1516-14A>G
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=) rs2101711850
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=)
NM_000036.3(AMPD1):c.156T>C (p.His52=)
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=)
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=)
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)
NM_000036.3(AMPD1):c.1662G>A (p.Val554=)
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)
NM_000036.3(AMPD1):c.174A>T (p.Ile58=) rs375898522
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)
NM_000036.3(AMPD1):c.1782T>C (p.His594=)
NM_000036.3(AMPD1):c.1800+12G>T
NM_000036.3(AMPD1):c.1800+14T>G
NM_000036.3(AMPD1):c.1800+7T>C
NM_000036.3(AMPD1):c.1806C>G (p.Pro602=)
NM_000036.3(AMPD1):c.189T>G (p.Thr63=) rs202046815
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=) rs760814471
NM_000036.3(AMPD1):c.1974+16G>T
NM_000036.3(AMPD1):c.1974+8A>G
NM_000036.3(AMPD1):c.1975-18C>T
NM_000036.3(AMPD1):c.1975-20_1975-18dup
NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)
NM_000036.3(AMPD1):c.204A>T (p.Thr68=)
NM_000036.3(AMPD1):c.2086-7C>T
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=) rs2101709600
NM_000036.3(AMPD1):c.23-10C>T
NM_000036.3(AMPD1):c.23-4A>G rs1388958387
NM_000036.3(AMPD1):c.255C>T (p.Ser85=)
NM_000036.3(AMPD1):c.261A>C (p.Pro87=)
NM_000036.3(AMPD1):c.282C>A (p.Thr94=) rs1395096733
NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)
NM_000036.3(AMPD1):c.315A>C (p.Ser105=)
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile) rs547487220
NM_000036.3(AMPD1):c.333C>G (p.Thr111=)
NM_000036.3(AMPD1):c.333C>T (p.Thr111=) rs138479739
NM_000036.3(AMPD1):c.34+19T>C
NM_000036.3(AMPD1):c.345T>C (p.Phe115=)
NM_000036.3(AMPD1):c.35-16T>C
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000036.3(AMPD1):c.369C>T (p.Asp123=)
NM_000036.3(AMPD1):c.375C>T (p.Ala125=)
NM_000036.3(AMPD1):c.381+17C>T
NM_000036.3(AMPD1):c.381+20T>C
NM_000036.3(AMPD1):c.381+7T>A
NM_000036.3(AMPD1):c.382-18C>T
NM_000036.3(AMPD1):c.471G>A (p.Arg157=)
NM_000036.3(AMPD1):c.480A>G (p.Lys160=)
NM_000036.3(AMPD1):c.547+13T>C
NM_000036.3(AMPD1):c.547+15A>G
NM_000036.3(AMPD1):c.547+16del
NM_000036.3(AMPD1):c.624C>G (p.Leu208=) rs542388930
NM_000036.3(AMPD1):c.633G>A (p.Lys211=)
NM_000036.3(AMPD1):c.726C>T (p.Asp242=)
NM_000036.3(AMPD1):c.767+12del
NM_000036.3(AMPD1):c.767+7G>A rs774393161
NM_000036.3(AMPD1):c.768-19G>A
NM_000036.3(AMPD1):c.864C>T (p.Asn288=) rs982156348
NM_000036.3(AMPD1):c.897+16G>A
NM_000036.3(AMPD1):c.897+19C>T
NM_000036.3(AMPD1):c.898-14G>A rs1452349780
NM_000036.3(AMPD1):c.898-18C>A
NM_000036.3(AMPD1):c.898-9T>C
NM_000036.3(AMPD1):c.918A>G (p.Ala306=)
NM_000036.3(AMPD1):c.951T>C (p.Arg317=)
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=)
NM_000036.3(AMPD1):c.9G>A (p.Leu3=) rs2101730055
NM_001025389.2(AMPD3):c.*1013GT[11] rs34205084

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.