ClinVar Miner

List of variants in gene ALPL reported as likely pathogenic for not provided

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Gene type:
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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.341C>T (p.Ala114Val) rs762915678 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00002
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) rs746390776 0.00001
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) rs1436960562 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1415A>G (p.His472Arg) rs1644755133 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 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.352C>A (p.Leu118Met) rs1284058976 0.00001
NM_000478.6(ALPL):c.422C>T (p.Thr141Ile) rs916300043 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.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.629A>G (p.His210Arg) rs748031071 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NC_000001.10:g.(?_21880585)_(21884063_?)del
NC_000001.11:g.(?_21573655)_(21573809_?)del
NC_000001.11:g.(?_21575723)_(21575934_?)del
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1007T>C (p.Ile336Thr) rs1644719271
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1015G>C (p.Gly339Arg)
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1075A>G (p.Ile359Val)
NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) rs199952414
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1137T>G (p.His379Gln)
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1145T>A (p.Val382Asp) rs2148190075
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp)
NM_000478.6(ALPL):c.1163A>G (p.Tyr388Cys) rs1644722925
NM_000478.6(ALPL):c.1165A>C (p.Thr389Pro)
NM_000478.6(ALPL):c.1171C>A (p.Arg391Ser)
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) rs772682471
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.118G>A (p.Ala40Thr) rs1455153945
NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr)
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly)
NM_000478.6(ALPL):c.1232C>T (p.Thr411Ile) rs2148192417
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) rs2148192444
NM_000478.6(ALPL):c.1240C>G (p.Leu414Val)
NM_000478.6(ALPL):c.1241T>C (p.Leu414Pro)
NM_000478.6(ALPL):c.1267G>A (p.Val423Met)
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) rs2148192552
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)
NM_000478.6(ALPL):c.1309+5G>A
NM_000478.6(ALPL):c.1322A>C (p.Tyr441Ser)
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1336G>A (p.Ala446Thr) rs2148194520
NM_000478.6(ALPL):c.1340T>C (p.Val447Ala) rs1570309482
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1366G>T (p.Gly456Trp)
NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu) rs1644753808
NM_000478.6(ALPL):c.1396C>G (p.Pro466Ala)
NM_000478.6(ALPL):c.1397C>G (p.Pro466Arg)
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) rs763073466
NM_000478.6(ALPL):c.1402G>T (p.Ala468Ser) rs1196976671
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1426G>C (p.Glu476Gln) rs1057517173
NM_000478.6(ALPL):c.1427A>G (p.Glu476Gly) rs2148195004
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)
NM_000478.6(ALPL):c.1468A>T (p.Ile490Phe)
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.181+1G>A
NM_000478.6(ALPL):c.182G>A (p.Gly61Glu)
NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.197C>G (p.Thr66Arg)
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) rs1553411896
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)
NM_000478.6(ALPL):c.284T>A (p.Val95Glu) rs2148152665
NM_000478.6(ALPL):c.297+5G>A
NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) rs1553412246
NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.332C>T (p.Ala111Val)
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.346G>T (p.Ala116Ser) rs121918013
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr) rs757771793
NM_000478.6(ALPL):c.395C>G (p.Ala132Gly) rs1558548925
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.401C>G (p.Thr134Ser)
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro) rs121918011
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.473-1G>A
NM_000478.6(ALPL):c.485G>A (p.Gly162Asp)
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.517A>G (p.Thr173Ala)
NM_000478.6(ALPL):c.520C>T (p.Pro174Ser)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.529G>T (p.Ala177Ser)
NM_000478.6(ALPL):c.536C>T (p.Ala179Val) rs748250829
NM_000478.6(ALPL):c.542C>G (p.Ser181Trp) rs199590449
NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) rs1644529037
NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)
NM_000478.6(ALPL):c.571G>C (p.Glu191Gln)
NM_000478.6(ALPL):c.62-1G>A
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.661G>T (p.Gly221Cys) rs769020799
NM_000478.6(ALPL):c.662G>T (p.Gly221Val)
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.716A>G (p.Asp239Gly)
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.792+1G>A
NM_000478.6(ALPL):c.792+1G>C
NM_000478.6(ALPL):c.823C>T (p.Leu275Phe)
NM_000478.6(ALPL):c.862+2T>G
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)
NM_000478.6(ALPL):c.883A>G (p.Met295Val)
NM_000478.6(ALPL):c.894G>T (p.Glu298Asp)
NM_000478.6(ALPL):c.916G>T (p.Asp306Tyr)
NM_000478.6(ALPL):c.919C>T (p.Pro307Ser)
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp) rs2148184736
NM_000478.6(ALPL):c.969C>A (p.Asn323Lys)
NM_000478.6(ALPL):c.969C>G (p.Asn323Lys)
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.998-2A>G rs1057516622

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