ClinVar Miner

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

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.62-29G>A rs200054024 0.00015
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 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.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr) rs1196976671 0.00001
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.550C>T (p.Arg184Trp) rs763159520 0.00001
NC_000010.11:g.72138925_72163147del
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.1023T>A (p.His341Gln) rs1280398041
NM_000478.6(ALPL):c.1024_1025delinsTT (p.Glu342Leu)
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.1072G>A (p.Ala358Thr) rs2148189769
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
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.1190G>T (p.Gly397Val) rs1400042777
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro)
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.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.1307A>C (p.Tyr436Ser) rs1644741692
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.1333T>A (p.Ser445Thr) rs1553415041
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
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.1376T>C (p.Val459Ala) rs2148194744
NM_000478.6(ALPL):c.1379C>T (p.Ala460Val) rs2148194761
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.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.1444dup (p.His482fs)
NM_000478.6(ALPL):c.1451T>C (p.Met484Thr)
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg)
NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)
NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)
NM_000478.6(ALPL):c.1563C>G (p.Ser521Arg)
NM_000478.6(ALPL):c.164T>A (p.Ile55Asn)
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.182-1G>A
NM_000478.6(ALPL):c.182-2A>G rs2148152217
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.206C>T (p.Ala69Val)
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.297+5G>A
NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys) rs2148158064
NM_000478.6(ALPL):c.319G>A (p.Val107Ile)
NM_000478.6(ALPL):c.332C>T (p.Ala111Val)
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.364_365del (p.Lys122fs)
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala)
NM_000478.6(ALPL):c.380C>T (p.Thr127Ile)
NM_000478.6(ALPL):c.412del (p.Arg138fs) rs1312528958
NM_000478.6(ALPL):c.412dup (p.Arg138fs)
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)
NM_000478.6(ALPL):c.433A>G (p.Asn145Asp) rs2148158880
NM_000478.6(ALPL):c.466G>T (p.Asp156Tyr)
NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del)
NM_000478.6(ALPL):c.511C>G (p.His171Asp)
NM_000478.6(ALPL):c.527C>T (p.Ala176Val)
NM_000478.6(ALPL):c.538C>A (p.His180Asn) rs2148161530
NM_000478.6(ALPL):c.539A>G (p.His180Arg)
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter) rs2148161624
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.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.625A>T (p.Met209Leu) rs1644530700
NM_000478.6(ALPL):c.649_650insC (p.Val217fs)
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
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.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)
NM_000478.6(ALPL):c.793-30_793-11del
NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)
NM_000478.6(ALPL):c.814del (p.Arg272fs)
NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)
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.955A>T (p.Ile319Phe)
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp) rs2148184736
NM_000478.6(ALPL):c.968A>T (p.Asn323Ile) rs2148184743
NM_000478.6(ALPL):c.981C>G (p.Phe327Leu)

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