ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome with pulmonary fibrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 210
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.*706C>G rs3830020 0.48408
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_000195.5(HPS1):c.*955A>G rs1737 0.45932
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44728
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43400
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
NM_000195.5(HPS1):c.*1167G>A rs1061437 0.35147
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.*1215C>T rs3830024 0.34580
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.21496
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_022081.6(HPS4):c.*1233C>T rs770072939 0.16771
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873 0.04930
NM_000195.5(HPS1):c.*694C>T rs7075480 0.04558
NM_000195.5(HPS1):c.987+13T>C rs12571249 0.04438
NM_000195.5(HPS1):c.*473G>A rs3830019 0.04437
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334 0.03653
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_022081.6(HPS4):c.*1227T>C rs7293228 0.01801
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_022081.6(HPS4):c.*1235C>T rs1235169942 0.01229
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_022081.6(HPS4):c.*1528T>G rs7292764 0.00979
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_022081.6(HPS4):c.*1207T>C rs534698074 0.00842
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_022081.6(HPS4):c.*1223T>C rs1367343497 0.00724
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_022081.6(HPS4):c.*1850G>A rs143168600 0.00456
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_022081.6(HPS4):c.*1237C>T rs886057305 0.00384
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000195.5(HPS1):c.*252C>T rs552596275 0.00346
NM_000195.5(HPS1):c.*736C>T rs149708847 0.00306
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_022081.6(HPS4):c.1883G>A (p.Arg628His) rs78892693 0.00257
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_022081.6(HPS4):c.15C>T (p.Thr5=) rs144622501 0.00193
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_022081.6(HPS4):c.-185A>G rs188205202 0.00154
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_000195.5(HPS1):c.*719T>C rs557194861 0.00125
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_022081.6(HPS4):c.*1253G>A rs534586940 0.00121
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_022081.6(HPS4):c.-585T>G rs187762406 0.00105
NM_022081.6(HPS4):c.888C>T (p.Asn296=) rs138343171 0.00086
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_022081.5(HPS4):c.-628C>G rs56821996 0.00078
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_022081.6(HPS4):c.*769G>A rs187297219 0.00071
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_000195.5(HPS1):c.*943C>T rs558066370 0.00059
NM_022081.6(HPS4):c.593G>A (p.Gly198Glu) rs199965734 0.00058
NM_022081.6(HPS4):c.-395A>C rs147631281 0.00047
NM_022081.5(HPS4):c.-661G>T rs753668169 0.00045
NM_022081.6(HPS4):c.618G>A (p.Pro206=) rs139165558 0.00043
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_022081.6(HPS4):c.704A>G (p.His235Arg) rs150166679 0.00040
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_022081.6(HPS4):c.*751G>A rs190837977 0.00039
NM_000195.5(HPS1):c.1887C>T (p.Pro629=) rs142347792 0.00036
NM_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_022081.6(HPS4):c.*1236G>A rs1356149759 0.00035
NM_022081.6(HPS4):c.1947G>A (p.Met649Ile) rs146303784 0.00033
NM_022081.6(HPS4):c.1747G>A (p.Glu583Lys) rs145481980 0.00030
NM_022081.6(HPS4):c.-42A>G rs369803062 0.00025
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_022081.6(HPS4):c.1192A>C (p.Arg398=) rs375655372 0.00023
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_022081.5(HPS4):c.-622G>C rs886057324 0.00022
NM_022081.6(HPS4):c.931C>A (p.Pro311Thr) rs140732502 0.00022
NM_022081.6(HPS4):c.-568T>A rs1023210861 0.00021
NM_022081.6(HPS4):c.133-6C>T rs571184796 0.00021
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_022081.6(HPS4):c.1680G>A (p.Pro560=) rs527653764 0.00017
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_022081.6(HPS4):c.1959T>C (p.Asn653=) rs202120615 0.00015
NM_000195.5(HPS1):c.366G>A (p.Leu122=) rs147269809 0.00014
NM_000195.5(HPS1):c.*1005A>G rs186229582 0.00013
NM_000195.5(HPS1):c.*403G>A rs886046589 0.00013
NM_000195.5(HPS1):c.-28G>A rs186783129 0.00013
NM_022081.6(HPS4):c.*1209T>C rs749313648 0.00013
NM_022081.6(HPS4):c.706+8G>C rs3747131 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_022081.6(HPS4):c.*2171C>T rs1013987506 0.00011
NM_022081.6(HPS4):c.-479+5G>A rs886057322 0.00011
NM_022081.6(HPS4):c.553C>T (p.Arg185Cys) rs369104384 0.00011
NM_022081.6(HPS4):c.922A>G (p.Thr308Ala) rs150057646 0.00011
NM_022081.6(HPS4):c.1679C>T (p.Pro560Leu) rs143902143 0.00010
NM_000195.5(HPS1):c.*626C>T rs776700327 0.00009
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_000195.5(HPS1):c.1951C>T (p.Arg651Cys) rs375322422 0.00009
NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp) rs3830014 0.00009
NM_022081.6(HPS4):c.*469C>T rs959233919 0.00009
NM_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_022081.6(HPS4):c.*423G>A rs552928725 0.00007
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_022081.6(HPS4):c.1232G>A (p.Ser411Asn) rs201043011 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_000195.5(HPS1):c.*589G>A rs540367850 0.00004
NM_000195.5(HPS1):c.*691G>A rs1012331153 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_022081.6(HPS4):c.*1359A>T rs886057298 0.00004
NM_022081.6(HPS4):c.*1576C>T rs886057297 0.00004
NM_022081.6(HPS4):c.*842G>A rs887874663 0.00004
NM_022081.6(HPS4):c.*946G>A rs1014910744 0.00004
NM_022081.6(HPS4):c.1897G>A (p.Val633Ile) rs202222123 0.00004
NM_022081.6(HPS4):c.570C>T (p.Leu190=) rs201820144 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_000195.5(HPS1):c.*327G>A rs886046590 0.00003
NM_000195.5(HPS1):c.1239G>T (p.Pro413=) rs777125097 0.00003
NM_000195.5(HPS1):c.256-4G>A rs372404024 0.00003
NM_000195.5(HPS1):c.468C>T (p.Tyr156=) rs772192145 0.00003
NM_000195.5(HPS1):c.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_022081.6(HPS4):c.*1594G>C rs886057296 0.00003
NM_022081.6(HPS4):c.*197G>T rs550753111 0.00003
NM_022081.6(HPS4):c.*369C>T rs886057316 0.00003
NM_022081.6(HPS4):c.38C>T (p.Ser13Leu) rs778872709 0.00003
NM_022081.6(HPS4):c.617C>T (p.Pro206Leu) rs746492833 0.00003
NM_000195.5(HPS1):c.*577C>T rs1455446444 0.00002
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00002
NM_022081.6(HPS4):c.*1256C>T rs886057299 0.00002
NM_022081.6(HPS4):c.*1691G>A rs1405392401 0.00002
NM_022081.6(HPS4):c.*228A>C rs182700538 0.00002
NM_022081.6(HPS4):c.1455G>A (p.Thr485=) rs756215705 0.00002
NM_022081.6(HPS4):c.1641C>T (p.Cys547=) rs199740072 0.00002
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_022081.6(HPS4):c.437T>C (p.Ile146Thr) rs549798245 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_000195.5(HPS1):c.*1235G>A rs886046584 0.00001
NM_000195.5(HPS1):c.*451C>G rs1185107542 0.00001
NM_000195.5(HPS1):c.*635T>C rs886046588 0.00001
NM_000195.5(HPS1):c.*639G>T rs1025107350 0.00001
NM_000195.5(HPS1):c.*968G>A rs972778777 0.00001
NM_000195.5(HPS1):c.-219C>G rs574471533 0.00001
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) rs755120094 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_000195.5(HPS1):c.2058G>C (p.Gln686His) rs780183454 0.00001
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 0.00001
NM_022081.6(HPS4):c.*391G>A rs886057315 0.00001
NM_022081.6(HPS4):c.-18A>G rs1159855728 0.00001
NM_022081.6(HPS4):c.-523G>T rs886057323 0.00001
NM_022081.6(HPS4):c.1479T>A (p.Asp493Glu) rs777570870 0.00001
NM_022081.6(HPS4):c.1692C>T (p.Asp564=) rs759632995 0.00001
NM_022081.6(HPS4):c.1758G>A (p.Leu586=) rs1356334936 0.00001
NM_022081.6(HPS4):c.411G>A (p.Thr137=) rs375462083 0.00001
NM_022081.6(HPS4):c.637G>A (p.Val213Ile) rs766791829 0.00001
NM_022081.6(HPS4):c.687G>A (p.Glu229=) rs758547221 0.00001
NM_022081.6(HPS4):c.81G>A (p.Lys27=) rs763708665 0.00001
NM_022081.6(HPS4):c.930T>C (p.Asp310=) rs1210344296 0.00001
NM_022081.6(HPS4):c.958G>C (p.Asp320His) rs143965829 0.00001
NM_000195.5(HPS1):c.*1001G>T rs190211350
NM_000195.5(HPS1):c.*1043C>T rs1844137935
NM_000195.5(HPS1):c.*1085G>A rs563447772
NM_000195.5(HPS1):c.*1212T>A rs557906923
NM_000195.5(HPS1):c.*1249G>A rs886046583
NM_000195.5(HPS1):c.*766G>T rs886046587
NM_000195.5(HPS1):c.*768A>G rs886046586
NM_000195.5(HPS1):c.*952T>G rs886046585
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1527C>G (p.Leu509=) rs17109850
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_022081.5(HPS4):c.-634C>T rs886057325
NM_022081.6(HPS4):c.*1120C>T rs886057312
NM_022081.6(HPS4):c.*1752C>G rs886057295
NM_022081.6(HPS4):c.*333C>T rs2085445155
NM_022081.6(HPS4):c.*515G>C rs886057314
NM_022081.6(HPS4):c.-116C>T rs886057321
NM_022081.6(HPS4):c.-281A>G rs1028325475
NM_022081.6(HPS4):c.-312C>T rs2091338704
NM_022081.6(HPS4):c.-317G>A rs2091338920
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.706+10G>A rs2088578226
NM_022081.6(HPS4):c.706+15G>T rs762647750
NM_022081.6(HPS4):c.727G>A (p.Val243Ile) rs749572804
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034

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