ClinVar Miner

List of variants reported as uncertain significance for Muscle AMP deaminase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
Download table as spreadsheet
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.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
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.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
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.1849A>G (p.Met617Val) rs565587413 0.00016
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.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NC_000001.11:g.114695547A>G 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.1292G>A (p.Arg431His) rs61757695 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.-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.1192A>G (p.Ile398Val) rs1263217341 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.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) rs376201207 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.1273C>T (p.Arg425Cys) rs187527797 0.00003
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) rs370481249 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.1432A>G (p.Met478Val) rs528215739 0.00002
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) rs746816406 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.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.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.1414C>A (p.Leu472Ile) rs761635115 0.00001
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) rs1657968687 0.00001
NM_000036.3(AMPD1):c.1679+1G>C rs1311864516 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.1761G>A (p.Met587Ile) rs1422341304 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.52C>T (p.Arg18Cys) rs369335745 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_000001.11:g.114695548C>A
NC_000001.11:g.114695550A>G rs759414256
NC_000001.11:g.114695560C>T
NM_000036.3(AMPD1):c.-15A>G
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.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.1220T>C (p.Ile407Thr)
NM_000036.3(AMPD1):c.1224+6G>A
NM_000036.3(AMPD1):c.1224+6G>T
NM_000036.3(AMPD1):c.1225-16T>A
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
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.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.137T>G (p.Ile46Ser)
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) rs746166547
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) rs1371202947
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
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.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.1562A>C (p.His521Pro) rs1156760290
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
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.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.1739C>T (p.Thr580Ile)
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
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.190_191del (p.Leu64fs)
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+1G>C rs145328844
NM_000036.3(AMPD1):c.1974+7T>C
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.2041G>A (p.Glu681Lys)
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2086-3T>C
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) rs759824860
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.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.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.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.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.308T>C (p.Ile103Thr)
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.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.35-2A>G
NM_000036.3(AMPD1):c.35-3T>C
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
NM_000036.3(AMPD1):c.381G>A (p.Gly127=)
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.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.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.62C>T (p.Ala21Val) rs1570852851
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.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+3_767+6del rs749694988
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.874C>T (p.Arg292Ter)
NM_000036.3(AMPD1):c.890G>A (p.Cys297Tyr)
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.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.988G>A (p.Val330Met)
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)

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.