ClinVar Miner

List of variants in gene ALPL reported as likely pathogenic by Invitae

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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 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.1415A>G (p.His472Arg) rs1644755133 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.629A>G (p.His210Arg) rs748031071 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 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.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1075A>G (p.Ile359Val)
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
NM_000478.6(ALPL):c.1112C>T (p.Thr371Ile)
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.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>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly)
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.1336G>A (p.Ala446Thr) rs2148194520
NM_000478.6(ALPL):c.1340T>C (p.Val447Ala) rs1570309482
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
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.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.152C>T (p.Ala51Val)
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
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.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)
NM_000478.6(ALPL):c.284T>A (p.Val95Glu) rs2148152665
NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)
NM_000478.6(ALPL):c.344C>T (p.Thr115Ile)
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.407G>C (p.Arg136Pro) rs121918011
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.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.529G>T (p.Ala177Ser)
NM_000478.6(ALPL):c.536C>T (p.Ala179Val) rs748250829
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.659G>A (p.Gly220Glu)
NM_000478.6(ALPL):c.661G>T (p.Gly221Cys) rs769020799
NM_000478.6(ALPL):c.662G>T (p.Gly221Val)
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) 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.880G>A (p.Asp294Asn)
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.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.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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