ClinVar Miner

List of variants studied for obsolete adult hypophosphatasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.473-70A>G rs1767428 0.98539
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000478.6(ALPL):c.862+58C>T rs2275375 0.25723
NM_000478.6(ALPL):c.1190-65C>A rs1780329 0.24659
NM_000478.6(ALPL):c.298-97C>T rs1256336 0.24412
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.863-46G>A rs74063110 0.18536
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_000478.6(ALPL):c.862+51G>A rs2275376 0.17994
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.792+76T>C rs3738097 0.17870
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_000478.6(ALPL):c.793-31C>T rs1256328 0.13784
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.1309+46C>T rs4654760 0.07555
NM_000478.6(ALPL):c.792+45G>T rs3738098 0.07447
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000478.6(ALPL):c.473-12C>T rs147181132 0.00137
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.-104-5T>C rs184586988 0.00097
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000478.6(ALPL):c.914C>T (p.Thr305Met) rs146908399 0.00012
NM_000478.6(ALPL):c.1455G>A (p.Ala485=) rs188443578 0.00009
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.-176C>T rs990367929 0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.1056G>A (p.Ala352=) rs774824768 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.918C>T (p.Asp306=) rs373257447 0.00005
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000478.6(ALPL):c.339C>T (p.Thr113=) rs377453516 0.00003
NM_000478.6(ALPL):c.341C>T (p.Ala114Val) rs762915678 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.863-15T>C rs373980626 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.1437C>T (p.Tyr479=) rs527657489 0.00002
NM_000478.6(ALPL):c.241C>T (p.Pro81Ser) rs915866721 0.00002
NM_000478.6(ALPL):c.26C>T (p.Ala9Val) rs772679576 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.863-8C>T rs775518662 0.00002
NM_000478.6(ALPL):c.1047G>T (p.Leu349=) rs771632536 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.109C>T (p.Leu37=) rs1205971311 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1143C>T (p.His381=) rs749419329 0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) rs746390776 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) rs781543452 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) rs759017288 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.282C>T (p.Phe94=) rs746608270 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.297+9C>A rs773328385 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.352C>A (p.Leu118Met) rs1284058976 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) rs761836226 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.532T>C (p.Tyr178His) rs1215600806 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.582T>C (p.Pro194=) rs112063292 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.660G>T (p.Gly220=) rs1558552231 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) rs121918020 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000478.5:g.(?_21835231)_(21904741_?)dup
NM_000478.6(ALPL):c.-194G>A rs111601456
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter)
NM_000478.6(ALPL):c.1068C>A (p.Asp356Glu)
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1097C>T (p.Thr366Ile)
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) rs1644722881
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1189+11C>T rs201272867
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.1190-2A>T rs1644739549
NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) rs2148192552
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) rs770548228
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)
NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro) rs1644741201
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser) rs1644741692
NM_000478.6(ALPL):c.1310-5C>T rs755472353
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) rs1644752699
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1372del (p.Asp458fs)
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) rs763073466
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000478.6(ALPL):c.1420G>A (p.Val474Ile)
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.1468A>C (p.Ile490Leu)
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.1499_1500delinsG (p.Ala500fs)
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del) rs766831104
NM_000478.6(ALPL):c.18del (p.Val7fs) rs1558543066
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533
NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) rs1304394441
NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.293C>T (p.Ser98Phe)
NM_000478.6(ALPL):c.297G>A (p.Lys99=) rs1314719242
NM_000478.6(ALPL):c.298-1G>A
NM_000478.6(ALPL):c.329G>A (p.Ser110Asn)
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)
NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)
NM_000478.6(ALPL):c.360_361del (p.Val121fs) rs751994699
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.382G>A (p.Val128Met)
NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)
NM_000478.6(ALPL):c.393C>T (p.Ser131=) rs2148158625
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr) rs757771793
NM_000478.6(ALPL):c.394del (p.Ala132fs)
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) rs747762186
NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.434_437del (p.Asn145fs)
NM_000478.6(ALPL):c.480del (p.Val161fs) rs1644527306
NM_000478.6(ALPL):c.500C>A (p.Thr167Lys) rs1408325840
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378
NM_000478.6(ALPL):c.511del (p.His171fs)
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)
NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) rs1644529037
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) rs1558549798
NM_000478.6(ALPL):c.567_568del (p.Asp189fs)
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter) rs121918007
NM_000478.6(ALPL):c.573_574del (p.Glu191fs)
NM_000478.6(ALPL):c.581_582del (p.Pro194fs)
NM_000478.6(ALPL):c.648+1G>T
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
NM_000478.6(ALPL):c.662del (p.Gly221fs) rs769948289
NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
NM_000478.6(ALPL):c.716_719delinsTAATGT (p.Asp239fs)
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.750_751del (p.Asp251fs)
NM_000478.6(ALPL):c.799del (p.His267fs)
NM_000478.6(ALPL):c.814del (p.Arg272fs)
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.907_908insCACG (p.Asn303fs)
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del) rs756329108
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.997G>T (p.Gly333Ter) rs2148184880

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