ClinVar Miner

List of variants reported as pathogenic for Adult hypophosphatasia

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00190
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00015
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00011
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00006
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1172G>A (p.Arg391His) rs1442918125 0.00001
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) rs759017288 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 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.340G>A (p.Ala114Thr) rs1320839573 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.382G>A (p.Val128Met) rs1159854007 0.00001
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 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.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611 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_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) rs1553414560
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1190-2A>T rs1644739549
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.1283G>C (p.Arg428Pro) rs1644741201
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) rs1553415041
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.1465T>A (p.Cys489Ser) rs2545351407
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.18del (p.Val7fs) rs1558543066
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.298-1G>A rs2545298389
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.360_361del (p.Val121fs) rs751994699
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.480del (p.Val161fs) rs1644527306
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.512A>G (p.His171Arg) rs778232217
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter) rs121918007
NM_000478.6(ALPL):c.648+1G>T rs749544042
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.662del (p.Gly221fs) rs769948289
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter) rs2545324707
NM_000478.6(ALPL):c.862+1G>A rs1553413512
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro) rs2148184404
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851

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