ClinVar Miner

List of variants in gene ALPL reported as uncertain significance for Hypophosphatasia

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.*697C>T rs41265991 0.00135
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.*685A>T rs78801483 0.00052
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.914C>T (p.Thr305Met) rs146908399 0.00012
NM_000478.6(ALPL):c.-81G>A rs528218843 0.00010
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.*343C>T rs886045997 0.00004
NM_000478.6(ALPL):c.*53C>T rs937173219 0.00004
NM_000478.6(ALPL):c.1131G>A (p.Ala377=) rs777986840 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.819G>A (p.Thr273=) rs372247799 0.00003
NM_000478.6(ALPL):c.*12C>T rs778673244 0.00002
NM_000478.6(ALPL):c.26C>T (p.Ala9Val) rs772679576 0.00002
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.846T>C (p.Asn282=) rs779625059 0.00002
NM_000478.6(ALPL):c.-51C>T rs753110554 0.00001
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.109C>T (p.Leu37=) rs1205971311 0.00001
NM_000478.6(ALPL):c.1208G>A (p.Ser403Asn) rs757564264 0.00001
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) rs781543452 0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1329G>A (p.Ala443=) rs756394364 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.333C>T (p.Ala111=) rs769379537 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NM_000478.6(ALPL):c.756C>T (p.Leu252=) rs867145238 0.00001
NM_000478.6(ALPL):c.*431C>A rs1570311854
NM_000478.6(ALPL):c.*65C>G rs1697405
NM_000478.6(ALPL):c.*684A>C rs1644770443
NM_000478.6(ALPL):c.*752A>G rs886045999
NM_000478.6(ALPL):c.-194G>A rs111601456
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1072G>A (p.Ala358Thr) rs2148189769
NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) rs199952414
NM_000478.6(ALPL):c.1169C>G (p.Pro390Arg) rs983864892
NM_000478.6(ALPL):c.1225C>G (p.Pro409Ala)
NM_000478.6(ALPL):c.1225C>T (p.Pro409Ser)
NM_000478.6(ALPL):c.1238T>C (p.Ile413Thr) rs2148192434
NM_000478.6(ALPL):c.1263C>T (p.Tyr421=) rs780762265
NM_000478.6(ALPL):c.1280A>C (p.Glu427Ala) rs773907984
NM_000478.6(ALPL):c.1307A>C (p.Tyr436Ser) rs1644741692
NM_000478.6(ALPL):c.1333T>A (p.Ser445Thr) rs1553415041
NM_000478.6(ALPL):c.1376T>C (p.Val459Ala) rs2148194744
NM_000478.6(ALPL):c.1379C>T (p.Ala460Val) rs2148194761
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.1451T>C (p.Met484Thr)
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg)
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.1567C>T (p.Leu523=) rs1455969376
NM_000478.6(ALPL):c.1574G>A (p.Ter525=) rs1644760126
NM_000478.6(ALPL):c.206C>T (p.Ala69Val)
NM_000478.6(ALPL):c.237C>T (p.His79=) rs1644479451
NM_000478.6(ALPL):c.270C>G (p.Asp90Glu) rs779180929
NM_000478.6(ALPL):c.297+5G>A
NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)
NM_000478.6(ALPL):c.433A>G (p.Asn145Asp) rs2148158880
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr) rs750842585
NM_000478.6(ALPL):c.538C>A (p.His180Asn) rs2148161530
NM_000478.6(ALPL):c.539A>G (p.His180Arg)
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) rs1057522942
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.625A>T (p.Met209Leu) rs1644530700
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.889T>A (p.Tyr297Asn) rs2148184355
NM_000478.6(ALPL):c.906C>A (p.Asn302Lys) rs560308330
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del) rs756329108
NM_000478.6(ALPL):c.955A>T (p.Ile319Phe)
NM_000478.6(ALPL):c.963G>A (p.Arg321=) rs757111696
NM_000478.6(ALPL):c.968A>T (p.Asn323Ile) rs2148184743

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