ClinVar Miner

List of variants in gene PGAP1 studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
NM_024989.4(PGAP1):c.1862-3C>T rs73988069 0.04584
NM_024989.4(PGAP1):c.534T>G (p.Leu178=) rs35444896 0.02335
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=) rs149815494 0.01375
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 0.01097
NM_024989.4(PGAP1):c.1952+10A>C rs7609297 0.00652
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_024989.4(PGAP1):c.1351-16A>G rs377329019 0.00148
NM_024989.4(PGAP1):c.649+11T>A rs181229301 0.00131
NM_024989.4(PGAP1):c.1729-12G>A rs75342998 0.00116
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563 0.00081
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu) rs142320636 0.00077
NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His) rs150893861 0.00066
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala) rs139107571 0.00046
NM_024989.4(PGAP1):c.1220+19T>C rs142559942 0.00043
NM_024989.4(PGAP1):c.2286+20C>G rs377640676 0.00042
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_024989.4(PGAP1):c.927+4T>C rs201984003 0.00037
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser) rs36086547 0.00035
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=) rs139927561 0.00034
NM_024989.4(PGAP1):c.2630+15T>C rs375452864 0.00032
NM_024989.4(PGAP1):c.187G>A (p.Ala63Thr) rs201585822 0.00031
NM_024989.4(PGAP1):c.2150+9_2150+10insA rs767941628 0.00021
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=) rs148349860 0.00019
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg) rs375115788 0.00019
NM_024989.4(PGAP1):c.310A>G (p.Ile104Val) rs200242648 0.00018
NM_024989.4(PGAP1):c.2073G>A (p.Thr691=) rs140419014 0.00016
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val) rs138036688 0.00016
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=) rs374678391 0.00013
NM_024989.4(PGAP1):c.1638A>G (p.Glu546=) rs142482606 0.00012
NM_024989.4(PGAP1):c.2287-11A>G rs369759909 0.00012
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu) rs749719250 0.00011
NM_024989.4(PGAP1):c.108G>A (p.Lys36=) rs753729948 0.00010
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln) rs368553507 0.00009
NM_024989.4(PGAP1):c.36G>A (p.Ala12=) rs755772242 0.00008
NM_024989.4(PGAP1):c.650-6C>T rs371032957 0.00008
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser) rs199809707 0.00007
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser) rs753237558 0.00007
NM_024989.4(PGAP1):c.148-8A>T rs765710378 0.00005
NM_024989.4(PGAP1):c.1008T>C (p.Asn336=) rs189590639 0.00004
NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser) rs572992003 0.00004
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln) rs769577378 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His) rs745554603 0.00004
NM_024989.4(PGAP1):c.546A>G (p.Ala182=) rs551623105 0.00004
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=) rs766852236 0.00003
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met) rs777153886 0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) rs201002323 0.00003
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn) rs771805552 0.00003
NM_024989.4(PGAP1):c.2421C>T (p.Asn807=) rs145600035 0.00003
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met) rs774987863 0.00003
NM_024989.4(PGAP1):c.1729-4C>T rs375994131 0.00002
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu) rs200637575 0.00002
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn) rs758283563 0.00002
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val) rs771720370 0.00002
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp) rs771798393 0.00002
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu) rs1176534322 0.00002
NM_024989.4(PGAP1):c.876G>A (p.Gln292=) rs1702308428 0.00002
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys) rs752507663 0.00001
NM_024989.4(PGAP1):c.1090-4G>A rs745651606 0.00001
NM_024989.4(PGAP1):c.1209C>T (p.Ser403=) rs1020678750 0.00001
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys) rs1291611574 0.00001
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr) rs780043187 0.00001
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter) rs143038880 0.00001
NM_024989.4(PGAP1):c.148-18A>G rs767260257 0.00001
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter) rs755341613 0.00001
NM_024989.4(PGAP1):c.1952+1G>C rs587777202 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys) rs776817075 0.00001
NM_024989.4(PGAP1):c.2286+1G>A rs1406991265 0.00001
NM_024989.4(PGAP1):c.2313A>G (p.Thr771=) rs765668457 0.00001
NM_024989.4(PGAP1):c.2338-13T>C rs779092825 0.00001
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs) rs767774867 0.00001
NM_024989.4(PGAP1):c.2388C>T (p.Asp796=) rs768328398 0.00001
NM_024989.4(PGAP1):c.2525+5G>A rs759133146 0.00001
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser) rs765007097 0.00001
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn) rs776985592 0.00001
NM_024989.4(PGAP1):c.2655A>G (p.Gln885=) rs778039608 0.00001
NM_024989.4(PGAP1):c.301+15A>C rs926876742 0.00001
NM_024989.4(PGAP1):c.39T>C (p.Phe13=) rs1322336391 0.00001
NM_024989.4(PGAP1):c.478-3T>C rs773139555 0.00001
NM_024989.4(PGAP1):c.585T>C (p.Asn195=) rs1038323136 0.00001
NM_024989.4(PGAP1):c.695A>G (p.His232Arg) rs749729836 0.00001
NM_024989.4(PGAP1):c.849C>G (p.Leu283=) rs868315664 0.00001
NM_024989.4(PGAP1):c.927+17T>C rs1429743943 0.00001
NM_024989.4(PGAP1):c.927+1G>A rs750079325 0.00001
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
NM_024989.4(PGAP1):c.1062G>A (p.Val354=) rs1576164995
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter) rs1576164991
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg) rs747024084
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
NM_024989.4(PGAP1):c.1089+16A>G
NM_024989.4(PGAP1):c.1090-2A>G rs869025581
NM_024989.4(PGAP1):c.1113A>G (p.Thr371=)
NM_024989.4(PGAP1):c.1173+10T>C rs767930615
NM_024989.4(PGAP1):c.1182T>C (p.Asn394=)
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
NM_024989.4(PGAP1):c.1220+10_1220+11del rs2125812459
NM_024989.4(PGAP1):c.1220+3A>G rs2125812472
NM_024989.4(PGAP1):c.1221-3A>G rs1701868598
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=) rs2125812117
NM_024989.4(PGAP1):c.124A>G (p.Met42Val) rs772948939
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024989.4(PGAP1):c.1273-18_1273-16del rs1446681212
NM_024989.4(PGAP1):c.1273-8del rs3835877
NM_024989.4(PGAP1):c.129T>C (p.Phe43=)
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA rs759795498
NM_024989.4(PGAP1):c.1351-22_1351-19del
NM_024989.4(PGAP1):c.1351-2A>G
NM_024989.4(PGAP1):c.1362T>C (p.Asp454=)
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs) rs781325598
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
NM_024989.4(PGAP1):c.1426+17T>A
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met) rs1329688368
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu) rs1329688368
NM_024989.4(PGAP1):c.1458A>C (p.Thr486=)
NM_024989.4(PGAP1):c.147+5G>C
NM_024989.4(PGAP1):c.148-9T>A
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=) rs1553601067
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
NM_024989.4(PGAP1):c.1500+14A>T
NM_024989.4(PGAP1):c.1501-18G>A
NM_024989.4(PGAP1):c.1501-2A>G rs1288514578
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.1553-16T>A
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter) rs869025578
NM_024989.4(PGAP1):c.1617A>G (p.Ala539=)
NM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
NM_024989.4(PGAP1):c.1729-16_1729-13del
NM_024989.4(PGAP1):c.1743T>A (p.Thr581=)
NM_024989.4(PGAP1):c.1755A>G (p.Gln585=)
NM_024989.4(PGAP1):c.1862-19A>T rs2125779528
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
NM_024989.4(PGAP1):c.1869C>T (p.Cys623=)
NM_024989.4(PGAP1):c.186C>T (p.Pro62=)
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala) rs1334582239
NM_024989.4(PGAP1):c.189A>G (p.Ala63=)
NM_024989.4(PGAP1):c.1952+1G>T rs587777202
NM_024989.4(PGAP1):c.1953-14T>G
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
NM_024989.4(PGAP1):c.195G>A (p.Glu65=)
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
NM_024989.4(PGAP1):c.2040C>T (p.Pro680=)
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr) rs2125778704
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro) rs1700574769
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
NM_024989.4(PGAP1):c.2137C>T (p.Leu713=)
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
NM_024989.4(PGAP1):c.2199C>T (p.Pro733=) rs1700545839
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter) rs1576086299
NM_024989.4(PGAP1):c.2286+11T>C
NM_024989.4(PGAP1):c.2286+13A>G
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_024989.4(PGAP1):c.2287-12T>C
NM_024989.4(PGAP1):c.2287-1G>A
NM_024989.4(PGAP1):c.2287-20G>A
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
NM_024989.4(PGAP1):c.2301A>G (p.Gln767=)
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
NM_024989.4(PGAP1):c.2338-16C>T
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.2338-2A>C rs1559328283
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys) rs760816428
NM_024989.4(PGAP1):c.2352T>C (p.Ser784=)
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
NM_024989.4(PGAP1):c.2525+4C>T
NM_024989.4(PGAP1):c.2526-4A>G
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr) rs2125775207
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs) rs1700449009
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
NM_024989.4(PGAP1):c.2630+20C>A
NM_024989.4(PGAP1):c.2631-7T>C
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser) rs1559326086
NM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)
NM_024989.4(PGAP1):c.2724T>C (p.Phe908=) rs112469537
NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
NM_024989.4(PGAP1):c.274_276del (p.Pro92del) rs869025579
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
NM_024989.4(PGAP1):c.301+10_301+12del
NM_024989.4(PGAP1):c.301+14G>A
NM_024989.4(PGAP1):c.301+17G>T rs371993991
NM_024989.4(PGAP1):c.301+5G>A
NM_024989.4(PGAP1):c.301+7C>T
NM_024989.4(PGAP1):c.302-17A>G rs2125837560
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val) rs375123215
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser) rs1703369332
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter) rs1410587479
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr) rs1364134988
NM_024989.4(PGAP1):c.477+12G>A
NM_024989.4(PGAP1):c.478-15G>T
NM_024989.4(PGAP1):c.492T>G (p.Ala164=) rs1246230813
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
NM_024989.4(PGAP1):c.573T>C (p.His191=)
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_024989.4(PGAP1):c.630A>G (p.Pro210=) rs1299716452
NM_024989.4(PGAP1):c.649+8C>G
NM_024989.4(PGAP1):c.684A>G (p.Leu228=)
NM_024989.4(PGAP1):c.705A>G (p.Leu235=) rs2125827476
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter) rs1702534679
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.807+14A>G
NM_024989.4(PGAP1):c.807+5T>C
NM_024989.4(PGAP1):c.808-7_808-3del rs570708925
NM_024989.4(PGAP1):c.822T>G (p.Pro274=)
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
NM_024989.4(PGAP1):c.860+16T>C
NM_024989.4(PGAP1):c.861-14_861-11del rs751306632
NM_024989.4(PGAP1):c.891A>C (p.Arg297=)
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr) rs1385705047
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val) rs1323722383
NM_024989.4(PGAP1):c.915T>C (p.Ala305=)
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs) rs869025580
NM_024989.4(PGAP1):c.927+12dup rs1162737906
NM_024989.4(PGAP1):c.927+9T>A
NM_024989.4(PGAP1):c.928-17A>G rs750038255
NM_024989.4(PGAP1):c.928-20T>G
NM_024989.4(PGAP1):c.951A>G (p.Lys317=)
NM_024989.4(PGAP1):c.984C>T (p.His328=)

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