ClinVar Miner

List of variants reported as likely pathogenic for Infantile hypophosphatasia

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Total variants: 55
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HGVS dbSNP
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.1080_1083GCAG[4] (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1112_1113CT[1] (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.114del (p.Lys38fs) rs1057517321
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939
NM_000478.6(ALPL):c.1179_1180CT[1] (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) rs1553414843
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) rs1057516293
NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) rs1553415035
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) rs1057517173
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209
NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) rs1057517337
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) rs772638759
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) rs1553415164
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) rs1553411920
NM_000478.6(ALPL):c.297+2T>A rs1057517304
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.392del (p.Ser131fs) rs1553412310
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011
NM_000478.6(ALPL):c.427del (p.Gln143fs) rs760134827
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser)
NM_000478.6(ALPL):c.61+2T>G rs764322898
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386
NM_000478.6(ALPL):c.841del (p.His281fs) rs1057516526
NM_000478.6(ALPL):c.862+1G>A rs1553413512
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) rs1553411779
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.903del (p.Asn302fs) rs768160006
NM_000478.6(ALPL):c.926_927TC[1] (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000478.6(ALPL):c.998-2A>G rs1057516622
NM_001177520.3(ALPL):c.66+353dup rs1553411890

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