ClinVar Miner

List of variants reported as likely pathogenic by JKU Lab, Dept of Paediatrics, Johannes Kepler University

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
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.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr)
NM_000478.6(ALPL):c.1156G>C (p.Gly386Arg)
NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp)
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro)
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) rs2148192455
NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) rs2148192467
NM_000478.6(ALPL):c.1247G>T (p.Gly416Val)
NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)
NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)
NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr)
NM_000478.6(ALPL):c.1327G>T (p.Ala443Ser)
NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) rs1644752699
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu) rs1644753808
NM_000478.6(ALPL):c.140A>T (p.Asn47Ile) rs2148151094
NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp) rs2148194946
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)
NM_000478.6(ALPL):c.1444dup (p.His482fs)
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.182-2A>G rs2148152217
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.237_238del (p.His79fs)
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)
NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)
NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys) rs2148158064
NM_000478.6(ALPL):c.319G>A (p.Val107Ile)
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.511C>G (p.His171Asp)
NM_000478.6(ALPL):c.527C>T (p.Ala176Val)
NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys)
NM_000478.6(ALPL):c.572A>G (p.Glu191Gly) rs1644529717
NM_000478.6(ALPL):c.601T>C (p.Cys201Arg) rs2148161800
NM_000478.6(ALPL):c.659G>T (p.Gly220Val)
NM_000478.6(ALPL):c.675_676insCA (p.Met226fs)
NM_000478.6(ALPL):c.69_74del rs2148150789
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.793-30_793-11del
NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)
NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp) rs2148184736

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