ClinVar Miner

List of variants in gene ALPL reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.*126A>G rs1697406 0.87087
NM_000478.6(ALPL):c.*233A>C rs1772719 0.18915
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_000478.6(ALPL):c.*388C>T rs2242420 0.11550
NM_000478.6(ALPL):c.*433A>G rs2242421 0.09301
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.*305C>T rs76073898 0.02707
NM_000478.6(ALPL):c.*460G>A rs114552089 0.02700
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.*204T>C rs116162120 0.00808
NM_000478.6(ALPL):c.*66C>A rs78043671 0.00395
NM_000478.6(ALPL):c.*480A>C rs138564953 0.00281
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
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.997+11C>T rs187255765 0.00105
NM_000478.6(ALPL):c.*337A>G rs538549134 0.00098
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.468C>T (p.Asp156=) rs143621566 0.00052
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000478.6(ALPL):c.*473G>T rs536009840 0.00010
NM_000478.6(ALPL):c.-81G>A rs528218843 0.00010
NM_000478.6(ALPL):c.1506G>A (p.Ser502=) rs751195005 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 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.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1425C>T (p.His475=) rs183381346 0.00003
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.*14G>A rs571140206 0.00001
NM_000478.6(ALPL):c.-51C>T rs753110554 0.00001
NM_000478.6(ALPL):c.109C>T (p.Leu37=) rs1205971311 0.00001
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) rs781543452 0.00001
NM_000478.6(ALPL):c.1329G>A (p.Ala443=) rs756394364 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.756C>T (p.Leu252=) rs867145238 0.00001
NM_000478.6(ALPL):c.*124del rs140511985
NM_000478.6(ALPL):c.*431C>A rs1570311854
NM_000478.6(ALPL):c.*65C>A rs1697405
NM_000478.6(ALPL):c.*65C>G rs1697405
NM_000478.6(ALPL):c.*65C>T rs1697405
NM_000478.6(ALPL):c.*684A>C rs1644770443
NM_000478.6(ALPL):c.*694dup rs200291738
NM_000478.6(ALPL):c.*752A>G rs886045999
NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) rs199952414
NM_000478.6(ALPL):c.1263C>T (p.Tyr421=) rs780762265
NM_000478.6(ALPL):c.1542G>A (p.Ala514=) rs3200256
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289

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