ClinVar Miner

List of variants in gene AMPD1 studied for inborn disorder of energy metabolism

Included ClinVar conditions (569):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 413
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_000036.3(AMPD1):c.243T>G (p.Thr81=) rs115655141 0.00686
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) rs80266556 0.00682
NM_000036.3(AMPD1):c.552T>C (p.Phe184=) rs35197706 0.00657
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) rs34287100 0.00557
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) rs34257411 0.00419
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) rs34778674 0.00417
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
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.1224+7C>T rs191152112 0.00139
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.468G>T (p.Gln156His) rs139582106 0.00096
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.1122G>A (p.Lys374=) rs138993729 0.00079
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00053
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_000036.3(AMPD1):c.195C>T (p.Ser65=) rs150208948 0.00044
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
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.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
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.1849A>G (p.Met617Val) rs565587413 0.00016
NM_000036.3(AMPD1):c.681T>C (p.Asp227=) rs201988963 0.00014
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val) rs776146662 0.00011
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_000036.3(AMPD1):c.440G>A (p.Arg147His) rs147852547 0.00010
NM_000036.3(AMPD1):c.1388+5G>A rs374144421 0.00009
NM_000036.3(AMPD1):c.1974+9T>C rs368331901 0.00009
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_000036.2(AMPD1):c.24T>C (p.Ser8=) rs377496676 0.00008
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His) rs140957303 0.00008
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe) rs145315039 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 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.1292G>A (p.Arg431His) rs61757695 0.00006
NM_000036.3(AMPD1):c.1389-16T>A rs778223264 0.00006
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met) rs776521726 0.00006
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00005
NM_000036.3(AMPD1):c.990G>T (p.Val330=) rs754808704 0.00005
NM_000036.3(AMPD1):c.-33T>C rs747318529 0.00004
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys) rs139512772 0.00004
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His) rs146437677 0.00004
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=) rs369767517 0.00004
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=) rs145557954 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn) rs149160130 0.00004
NM_000036.3(AMPD1):c.504C>T (p.Asn168=) rs374681411 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) rs376201207 0.00004
NM_000036.3(AMPD1):c.636C>T (p.Asp212=) rs181412206 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His) rs372451247 0.00003
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr) rs758334449 0.00003
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=) rs141829342 0.00003
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys) rs187527797 0.00003
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) rs370481249 0.00003
NM_000036.3(AMPD1):c.1800+15C>G rs570359428 0.00003
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys) rs12566550 0.00003
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro) rs1183959177 0.00003
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln) rs368656142 0.00003
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val) rs369685849 0.00003
NM_000036.3(AMPD1):c.801C>G (p.Leu267=) rs536037850 0.00003
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) rs528215739 0.00002
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) rs145786786 0.00002
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) rs746816406 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.2173A>G (p.Met725Val) rs778481612 0.00002
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys) rs147035391 0.00002
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu) rs777043982 0.00002
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys) rs777934972 0.00002
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys) rs748720444 0.00002
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys) rs763848203 0.00002
NM_000036.3(AMPD1):c.906C>T (p.Thr302=) rs1013897127 0.00002
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro) rs756169459 0.00001
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser) rs1398708257 0.00001
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala) rs1431463591 0.00001
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro) rs762722076 0.00001
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met) rs144014236 0.00001
NM_000036.3(AMPD1):c.1225-12T>C rs762334770 0.00001
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg) rs1276731554 0.00001
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp) rs773253177 0.00001
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile) rs768842182 0.00001
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr) rs781739971 0.00001
NM_000036.3(AMPD1):c.1388+10T>C rs760486294 0.00001
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile) rs761635115 0.00001
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) rs1657968687 0.00001
NM_000036.3(AMPD1):c.1662G>T (p.Val554=) rs780245321 0.00001
NM_000036.3(AMPD1):c.1679+1G>C rs1311864516 0.00001
NM_000036.3(AMPD1):c.1680-20T>C rs771812174 0.00001
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln) rs760410776 0.00001
NM_000036.3(AMPD1):c.1743T>C (p.His581=) rs768544368 0.00001
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile) rs1422341304 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.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.510T>C (p.Asp170=) rs772153823 0.00001
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys) rs369335745 0.00001
NM_000036.3(AMPD1):c.687T>C (p.Pro229=) rs748174102 0.00001
NM_000036.3(AMPD1):c.782A>G (p.His261Arg) rs554380360 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln) rs1290122973 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NC_000001.10:g.(?_115215735)_(115218644_?)del
NC_000001.10:g.(?_115231162)_(115238191_?)del
NC_000001.11:g.114695550A>G rs759414256
NM_000036.2(AMPD1):c.11G>A (p.Arg4Lys)
NM_000036.2(AMPD1):c.23G>T (p.Ser8Ile)
NM_000036.2(AMPD1):c.9C>T (p.Val3=) rs748160625
NM_000036.3(AMPD1):c.-15A>G
NM_000036.3(AMPD1):c.-31T>C
NM_000036.3(AMPD1):c.-42C>T
NM_000036.3(AMPD1):c.-45CTT[1]
NM_000036.3(AMPD1):c.-60dup rs770393080
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile) rs377513152
NM_000036.3(AMPD1):c.104G>A (p.Arg35His) rs147972392
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu) rs147972392
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter) rs746801564
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro)
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)
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.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly)
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu) rs769460760
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu)
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)
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.1220T>C (p.Ile407Thr)
NM_000036.3(AMPD1):c.1224+15A>G
NM_000036.3(AMPD1):c.1224+6G>A
NM_000036.3(AMPD1):c.1224+6G>T
NM_000036.3(AMPD1):c.1225-13C>A
NM_000036.3(AMPD1):c.1225-16T>A
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg) rs1207724365
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala) rs2101713600
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val) rs1658021879
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=)
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser)
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter) rs1447749222
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu)
NM_000036.3(AMPD1):c.1378C>T (p.Pro460Ser)
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) rs746166547
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=)
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) rs1371202947
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.1391A>G (p.Asp464Gly)
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=)
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr)
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys) rs1570838359
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu)
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu) rs966578460
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.1517T>C (p.Ile506Thr)
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn)
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=) rs2101711850
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=)
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro) rs1156760290
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
NM_000036.3(AMPD1):c.156T>C (p.His52=)
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=)
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=)
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys)
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile) rs1657954756
NM_000036.3(AMPD1):c.1662G>A (p.Val554=)
NM_000036.3(AMPD1):c.1679+1G>T
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr)
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg) rs2101711121
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=)
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
NM_000036.3(AMPD1):c.174A>T (p.Ile58=) rs375898522
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=)
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
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.1806C>T (p.Pro602=) rs148515775
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys) rs1354176888
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter) rs1354176888
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp) rs1017107552
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)
NM_000036.3(AMPD1):c.189T>G (p.Thr63=) rs202046815
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs)
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=) rs760814471
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)
NM_000036.3(AMPD1):c.1974+16G>T
NM_000036.3(AMPD1):c.1974+1G>C rs145328844
NM_000036.3(AMPD1):c.1974+7T>C
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.1979C>A (p.Pro660His) rs267597931
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu) rs267597931
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr) rs1657899229
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly) rs2101710015
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)
NM_000036.3(AMPD1):c.2040C>T (p.Cys680=)
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
NM_000036.3(AMPD1):c.204A>T (p.Thr68=)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2086-3T>C
NM_000036.3(AMPD1):c.2086-7C>T
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) rs759824860
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=)
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=)
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)
NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=) rs2101709600
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)
NM_000036.3(AMPD1):c.215+1G>A
NM_000036.3(AMPD1):c.215+6T>C
NM_000036.3(AMPD1):c.216-17T>G
NM_000036.3(AMPD1):c.216-2del
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu) rs146036570
NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter) rs1657881990
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.21A>C (p.Pro7=)
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.23-10C>T
NM_000036.3(AMPD1):c.23-4A>G rs1388958387
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp) rs749940824
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.285A>C (p.Lys95Asn)
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg) rs2101730071
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln)
NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.306C>T (p.Tyr102=)
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr)
NM_000036.3(AMPD1):c.309T>A (p.Ile103=) rs398123115
NM_000036.3(AMPD1):c.315A>C (p.Ser105=)
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile) rs547487220
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu) rs1284363894
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
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.34+3G>A
NM_000036.3(AMPD1):c.34+5G>A
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile)
NM_000036.3(AMPD1):c.345T>C (p.Phe115=)
NM_000036.3(AMPD1):c.35-16T>C
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.35-3T>C
NM_000036.3(AMPD1):c.35-7_35-4del rs398123114
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
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.381G>A (p.Gly127=)
NM_000036.3(AMPD1):c.382-18C>T
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)
NM_000036.3(AMPD1):c.471G>A (p.Arg157=)
NM_000036.3(AMPD1):c.480A>G (p.Lys160=)
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp)
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser)
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu)
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.586C>T (p.Arg196Ter) rs775029965
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)
NM_000036.3(AMPD1):c.592G>C (p.Asp198His) rs267597934
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)
NM_000036.3(AMPD1):c.624C>G (p.Leu208=) rs542388930
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val) rs1570852851
NM_000036.3(AMPD1):c.633G>A (p.Lys211=)
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile) rs1165630426
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu)
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)
NM_000036.3(AMPD1):c.726C>T (p.Asp242=)
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr)
NM_000036.3(AMPD1):c.740dup (p.Leu247fs)
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val)
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser)
NM_000036.3(AMPD1):c.759A>T (p.Gln253His)
NM_000036.3(AMPD1):c.767+12del
NM_000036.3(AMPD1):c.767+3_767+6del rs749694988
NM_000036.3(AMPD1):c.767+7G>A rs774393161
NM_000036.3(AMPD1):c.768-11A>G
NM_000036.3(AMPD1):c.768-19G>A
NM_000036.3(AMPD1):c.768-2A>G
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln) rs750114853
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile) rs1161639285
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe) rs2101715947
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu) rs145030449
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln) rs2101715885
NM_000036.3(AMPD1):c.864C>T (p.Asn288=) rs982156348
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)
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.89A>T (p.Lys30Ile)
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile)
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val)
NM_000036.3(AMPD1):c.918A>G (p.Ala306=)
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr)
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly) rs201837665
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val)
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.951T>C (p.Arg317=)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=)
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)
NM_000036.3(AMPD1):c.9G>A (p.Leu3=) rs2101730055

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