ClinVar Miner

List of variants in gene ALPL reported as uncertain significance for not provided

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Total variants: 179
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HGVS dbSNP gnomAD frequency
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.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.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.910G>A (p.Val304Met) rs745704006 0.00005
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln) rs202022405 0.00004
NM_000478.6(ALPL):c.1541C>T (p.Ala514Val) rs371373128 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly) rs1428657470 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000478.6(ALPL):c.1562G>A (p.Ser521Asn) rs368326384 0.00003
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.757G>A (p.Val253Ile) rs151270365 0.00003
NM_000478.6(ALPL):c.1492G>A (p.Ala498Thr) rs754125867 0.00002
NM_000478.6(ALPL):c.241C>T (p.Pro81Ser) rs915866721 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.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu) rs368809478 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 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.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.1520C>T (p.Ala507Val) rs1446100831 0.00001
NM_000478.6(ALPL):c.208G>A (p.Ala70Thr) rs147116628 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.610A>T (p.Ile204Phe) rs374558572 0.00001
NM_000478.6(ALPL):c.650T>C (p.Val217Ala) rs777699004 0.00001
NM_000478.6(ALPL):c.701T>C (p.Val234Ala) rs779322468 0.00001
NM_000478.6(ALPL):c.91G>A (p.Asp31Asn) rs757127456 0.00001
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu) rs768555495 0.00001
NM_000478.6(ALPL):c.962G>A (p.Arg321Gln) rs138679161 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000478.6(ALPL):c.-3A>C
NM_000478.6(ALPL):c.-6T>C
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)
NM_000478.6(ALPL):c.1028G>A (p.Gly343Glu)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1053G>C (p.Glu351Asp)
NM_000478.6(ALPL):c.1055C>T (p.Ala352Val)
NM_000478.6(ALPL):c.1065G>A (p.Met355Ile)
NM_000478.6(ALPL):c.1069C>T (p.Arg357Trp)
NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg)
NM_000478.6(ALPL):c.1084G>A (p.Ala362Thr)
NM_000478.6(ALPL):c.1094T>G (p.Leu365Trp) rs2148189860
NM_000478.6(ALPL):c.1097C>T (p.Thr366Ile)
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1151C>G (p.Thr384Arg)
NM_000478.6(ALPL):c.1151C>T (p.Thr384Ile) rs2148190082
NM_000478.6(ALPL):c.1166C>G (p.Thr389Ser) rs746390776
NM_000478.6(ALPL):c.1169C>G (p.Pro390Arg) rs983864892
NM_000478.6(ALPL):c.116A>G (p.Tyr39Cys)
NM_000478.6(ALPL):c.1174G>A (p.Gly392Ser) rs1644724050
NM_000478.6(ALPL):c.1190-3C>T
NM_000478.6(ALPL):c.1214C>G (p.Thr405Arg)
NM_000478.6(ALPL):c.1226C>T (p.Pro409Leu)
NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) rs2148192467
NM_000478.6(ALPL):c.1262A>G (p.Tyr421Cys)
NM_000478.6(ALPL):c.1283G>T (p.Arg428Leu)
NM_000478.6(ALPL):c.1309+5G>A
NM_000478.6(ALPL):c.1310-2A>C
NM_000478.6(ALPL):c.1315AAC[1] (p.Asn440del)
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly) rs1558558773
NM_000478.6(ALPL):c.1407C>G (p.His469Gln)
NM_000478.6(ALPL):c.143C>T (p.Thr48Ile)
NM_000478.6(ALPL):c.1475C>T (p.Ala492Val)
NM_000478.6(ALPL):c.1483G>C (p.Gly495Arg) rs761079751
NM_000478.6(ALPL):c.148G>A (p.Val50Met)
NM_000478.6(ALPL):c.1498G>A (p.Ala500Thr) rs762216748
NM_000478.6(ALPL):c.1503C>T (p.Ser501=) rs1644757548
NM_000478.6(ALPL):c.1505C>A (p.Ser502Ter) rs550358395
NM_000478.6(ALPL):c.1507G>A (p.Ala503Thr) rs1644757745
NM_000478.6(ALPL):c.1547C>T (p.Ala516Val)
NM_000478.6(ALPL):c.1563C>G (p.Ser521Arg)
NM_000478.6(ALPL):c.1564G>A (p.Val522Ile)
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del) rs766831104
NM_000478.6(ALPL):c.163A>G (p.Ile55Val)
NM_000478.6(ALPL):c.166A>G (p.Met56Val)
NM_000478.6(ALPL):c.167T>C (p.Met56Thr)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.181G>A (p.Gly61Arg) rs2148151280
NM_000478.6(ALPL):c.182-2_200dup
NM_000478.6(ALPL):c.184A>T (p.Met62Leu)
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.217_219del (p.Leu73del) rs2148152384
NM_000478.6(ALPL):c.22C>G (p.Leu8Val)
NM_000478.6(ALPL):c.232C>T (p.His78Tyr)
NM_000478.6(ALPL):c.245G>A (p.Gly82Glu) rs2148152529
NM_000478.6(ALPL):c.267G>C (p.Met89Ile) rs771240396
NM_000478.6(ALPL):c.270C>G (p.Asp90Glu) rs779180929
NM_000478.6(ALPL):c.275T>C (p.Phe92Ser)
NM_000478.6(ALPL):c.289C>A (p.Leu97Ile)
NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)
NM_000478.6(ALPL):c.297+5G>A
NM_000478.6(ALPL):c.297+6C>T
NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys) rs2148158064
NM_000478.6(ALPL):c.327_329dup (p.Ser110_Ala111insSer)
NM_000478.6(ALPL):c.329_330inv (p.Ser110Asn)
NM_000478.6(ALPL):c.32G>A (p.Gly11Asp)
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.356G>C (p.Cys119Ser)
NM_000478.6(ALPL):c.35C>T (p.Thr12Ile) rs1570252164
NM_000478.6(ALPL):c.370A>G (p.Asn124Asp)
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala)
NM_000478.6(ALPL):c.380C>A (p.Thr127Asn)
NM_000478.6(ALPL):c.388G>A (p.Val130Ile)
NM_000478.6(ALPL):c.415T>C (p.Cys139Arg) rs1644511163
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr) rs750842585
NM_000478.6(ALPL):c.499A>G (p.Thr167Ala) rs1553412481
NM_000478.6(ALPL):c.515C>A (p.Ala172Asp) rs1570276506
NM_000478.6(ALPL):c.515C>T (p.Ala172Val) rs1570276506
NM_000478.6(ALPL):c.549C>G (p.Asp183Glu)
NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)
NM_000478.6(ALPL):c.570C>G (p.Asn190Lys) rs760153868
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) rs1057522942
NM_000478.6(ALPL):c.598G>T (p.Gly200Cys)
NM_000478.6(ALPL):c.602G>A (p.Cys201Tyr)
NM_000478.6(ALPL):c.604A>G (p.Lys202Glu)
NM_000478.6(ALPL):c.608_609delinsTT (p.Asp203Val)
NM_000478.6(ALPL):c.61+3A>G rs2148135419
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.647A>G (p.Asp216Gly)
NM_000478.6(ALPL):c.649-3T>C
NM_000478.6(ALPL):c.699T>A (p.Asp233Glu)
NM_000478.6(ALPL):c.701T>G (p.Val234Gly) rs779322468
NM_000478.6(ALPL):c.711G>C (p.Glu237Asp)
NM_000478.6(ALPL):c.716A>G (p.Asp239Gly)
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.757G>C (p.Val253Leu)
NM_000478.6(ALPL):c.773G>A (p.Ser258Asn)
NM_000478.6(ALPL):c.781C>A (p.Pro261Thr)
NM_000478.6(ALPL):c.792+4G>T
NM_000478.6(ALPL):c.792G>T (p.Lys264Asn)
NM_000478.6(ALPL):c.793-16_793-15del
NM_000478.6(ALPL):c.803T>G (p.Phe268Cys)
NM_000478.6(ALPL):c.810G>A (p.Trp270Ter) rs1558553380
NM_000478.6(ALPL):c.818C>G (p.Thr273Arg)
NM_000478.6(ALPL):c.822A>T (p.Glu274Asp)
NM_000478.6(ALPL):c.827T>C (p.Leu276Pro) rs1644628318
NM_000478.6(ALPL):c.833T>C (p.Leu278Pro) rs2148177029
NM_000478.6(ALPL):c.850G>A (p.Asp284Asn)
NM_000478.6(ALPL):c.862+4A>G rs2148177101
NM_000478.6(ALPL):c.862+6T>C rs956701286
NM_000478.6(ALPL):c.863G>A (p.Gly288Asp) rs2148184225
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.887A>C (p.Gln296Pro)
NM_000478.6(ALPL):c.88C>G (p.Arg30Gly) rs1057516334
NM_000478.6(ALPL):c.902G>A (p.Arg301Lys) rs1644684840
NM_000478.6(ALPL):c.903G>T (p.Arg301Ser)
NM_000478.6(ALPL):c.906C>A (p.Asn302Lys) rs560308330
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000478.6(ALPL):c.935TGG[5] (p.Val315_Ala316insVal)
NM_000478.6(ALPL):c.940G>T (p.Val314Leu)
NM_000478.6(ALPL):c.943G>T (p.Val315Leu)
NM_000478.6(ALPL):c.949A>T (p.Ile317Phe) rs1644686464
NM_000478.6(ALPL):c.952C>A (p.Gln318Lys) rs752356218
NM_000478.6(ALPL):c.957C>G (p.Ile319Met) rs1310593535
NM_000478.6(ALPL):c.979_980delinsGG (p.Phe327Gly)
NM_000478.6(ALPL):c.984C>G (p.Phe328Leu)

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