ClinVar Miner

List of variants in gene ALPL reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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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.876A>G (p.Pro292=) rs3200255 0.18763
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.1565T>C (p.Val522Ala) rs34605986 0.07856
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.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
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.413G>A (p.Arg138Gln) rs140167865 0.00017
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
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.1014C>T (p.His338=) rs147688908 0.00011
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=) rs747539132 0.00007
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala) rs121918002 0.00007
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
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.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.846T>C (p.Asn282=) rs779625059 0.00002
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val) rs121918008 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 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.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.212G>A (p.Arg71His) rs121918003 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.814C>T (p.Arg272Cys) rs121918020 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000478.6(ALPL):c.-194G>A rs111601456
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1169C>G (p.Pro390Arg) rs983864892
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1280A>C (p.Glu427Ala) rs773907984
NM_000478.6(ALPL):c.1290T>C (p.Asn430=) rs200330153
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.1567C>T (p.Leu523=) rs1455969376
NM_000478.6(ALPL):c.1574G>A (p.Ter525=) rs1644760126
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) rs1553411896
NM_000478.6(ALPL):c.237C>T (p.His79=) rs1644479451
NM_000478.6(ALPL):c.270C>G (p.Asp90Glu) rs779180929
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.369C>A (p.Ala123=) rs201342272
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
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.472+12del rs35423948
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) rs1057522942
NM_000478.6(ALPL):c.659G>C (p.Gly220Ala) rs1644592603
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.831C>T (p.Thr277=) rs1458491740
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del) rs756329108
NM_000478.6(ALPL):c.963G>A (p.Arg321=) rs757111696

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