ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 423
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.1875G>T (p.Gln625His) rs1894704 0.86250
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_000195.5(HPS1):c.768+64A>G rs2296431 0.67902
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.53604
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_022081.6(HPS4):c.1327C>G (p.Leu443Val) rs2014410 0.35365
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.118-54A>T rs2296430 0.33514
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.937+88C>T rs34533614 0.13757
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
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_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00699
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.710C>T (p.Ala237Val) rs77597168 0.00411
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_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 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_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
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.1406A>G (p.Gln469Arg) rs148978269 0.00133
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_000195.5(HPS1):c.1897G>A (p.Asp633Asn) rs150740880 0.00049
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser) rs116698870 0.00049
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_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
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_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
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.1067A>C (p.Asn356Thr) rs374389539 0.00016
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.1409C>T (p.Ala470Val) rs768146409 0.00012
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_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
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.1448G>A (p.Arg483Gln) rs199996900 0.00009
NM_000195.5(HPS1):c.1766C>T (p.Ala589Val) rs528827909 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_000195.5(HPS1):c.760G>A (p.Asp254Asn) rs376078258 0.00006
NM_000195.5(HPS1):c.970C>G (p.Pro324Ala) rs1055799878 0.00006
NM_022081.6(HPS4):c.1014C>T (p.Pro338=) rs188300485 0.00006
NM_022081.6(HPS4):c.384+1G>A rs201334605 0.00006
NM_000195.5(HPS1):c.1860G>A (p.Gly620=) rs376722018 0.00005
NM_000195.5(HPS1):c.320G>A (p.Arg107Gln) rs538482143 0.00005
NM_000195.5(HPS1):c.742G>A (p.Glu248Lys) rs11189601 0.00005
NM_000195.5(HPS1):c.909A>G (p.Pro303=) rs139169204 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.1164C>T (p.Ser388=) rs747305546 0.00004
NM_000195.5(HPS1):c.1341C>G (p.Thr447=) rs990213443 0.00004
NM_000195.5(HPS1):c.1532+14G>A rs761708348 0.00004
NM_000195.5(HPS1):c.1977C>T (p.Thr659=) rs751349303 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 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.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_022081.6(HPS4):c.680C>T (p.Thr227Met) rs201806802 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 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.1533-6C>T rs751468611 0.00003
NM_000195.5(HPS1):c.2068C>T (p.Arg690Cys) rs367656088 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.517C>T (p.Arg173Ter) rs538274657 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.1050G>T (p.Arg350Ser) rs748998125 0.00002
NM_000195.5(HPS1):c.1857+2T>C rs374689398 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_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.398+2T>C rs1486224265 0.00002
NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) rs281865080 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 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.2041G>A (p.Gly681Ser) rs149568178 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.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1294A>T (p.Met432Leu) rs756067445 0.00001
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter) rs1185127836 0.00001
NM_000195.5(HPS1):c.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 0.00001
NM_000195.5(HPS1):c.1447C>T (p.Arg483Trp) rs755120094 0.00001
NM_000195.5(HPS1):c.1532+13C>T rs202086569 0.00001
NM_000195.5(HPS1):c.1533-16G>A rs763995634 0.00001
NM_000195.5(HPS1):c.1545G>A (p.Thr515=) rs141596696 0.00001
NM_000195.5(HPS1):c.1598+11G>A rs538837544 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1791C>T (p.Tyr597=) rs764612179 0.00001
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter) rs886077189 0.00001
NM_000195.5(HPS1):c.1858-1G>A rs758797992 0.00001
NM_000195.5(HPS1):c.1940+2T>C rs972096803 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.2086C>T (p.Arg696Cys) rs118116760 0.00001
NM_000195.5(HPS1):c.2087G>A (p.Arg696His) rs759163020 0.00001
NM_000195.5(HPS1):c.307G>A (p.Gly103Arg) rs771121322 0.00001
NM_000195.5(HPS1):c.31G>A (p.Ala11Thr) rs770719820 0.00001
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) rs281865076 0.00001
NM_000195.5(HPS1):c.399-5C>T rs765780669 0.00001
NM_000195.5(HPS1):c.419C>T (p.Ala140Val) rs1243685743 0.00001
NM_000195.5(HPS1):c.498C>T (p.Phe166=) rs375340317 0.00001
NM_000195.5(HPS1):c.507+14G>A rs367821874 0.00001
NM_000195.5(HPS1):c.565C>T (p.Arg189Trp) rs757374077 0.00001
NM_000195.5(HPS1):c.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.602G>A (p.Arg201Gln) rs746626404 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.814C>T (p.Gln272Ter) rs1846158787 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 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.706+1G>A rs374343385 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
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
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.1065del (p.Asn356fs)
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
NM_000195.5(HPS1):c.1084del (p.Cys362fs)
NM_000195.5(HPS1):c.1090dup (p.Leu364fs) rs2136156603
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1198del (p.Asp400fs)
NM_000195.5(HPS1):c.1219A>T (p.Lys407Ter)
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs) rs1303126934
NM_000195.5(HPS1):c.1293_1297delinsT (p.Arg431fs)
NM_000195.5(HPS1):c.1335+1G>A
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1405C>T (p.Gln469Ter)
NM_000195.5(HPS1):c.141dup (p.Ser48fs)
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) rs757853476
NM_000195.5(HPS1):c.1437C>A (p.Cys479Ter) rs552340796
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1472C>G (p.Pro491Arg) rs2296434
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1473dup (p.Ser492fs) rs1278834481
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter) rs769446880
NM_000195.5(HPS1):c.1519dup (p.Gln507fs)
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.1533-17C>T rs187227619
NM_000195.5(HPS1):c.1593G>C (p.Met531Ile) rs2136134351
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1647C>T (p.Arg549=) rs886046591
NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) rs1591031929
NM_000195.5(HPS1):c.1697C>T (p.Ser566Leu) rs1271147542
NM_000195.5(HPS1):c.1718C>G (p.Pro573Arg) rs372351461
NM_000195.5(HPS1):c.1718C>T (p.Pro573Leu) rs372351461
NM_000195.5(HPS1):c.1763T>C (p.Leu588Pro) rs1302271283
NM_000195.5(HPS1):c.1771A>T (p.Arg591Ter)
NM_000195.5(HPS1):c.1773_1783delinsC (p.Arg591fs)
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1780C>T (p.Gln594Ter)
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.187G>T (p.Glu63Ter) rs1591120765
NM_000195.5(HPS1):c.1925del (p.Gly642fs) rs2136083690
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.1938_1939insG (p.Arg647fs)
NM_000195.5(HPS1):c.1968C>A (p.Asn656Lys) rs1844278117
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) rs121908385
NM_000195.5(HPS1):c.2017T>C (p.Ser673Pro) rs1844268357
NM_000195.5(HPS1):c.201C>G (p.Asp67Glu) rs973290077
NM_000195.5(HPS1):c.2029_2057del (p.Thr677fs)
NM_000195.5(HPS1):c.2053G>C (p.Gly685Arg) rs554593853
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) rs376557022
NM_000195.5(HPS1):c.322A>T (p.Lys108Ter)
NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) rs121908386
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.507+2T>G rs1591109881
NM_000195.5(HPS1):c.533del (p.Gln178fs)
NM_000195.5(HPS1):c.54A>G (p.Thr18=) rs531947687
NM_000195.5(HPS1):c.595_601del (p.Pro199fs)
NM_000195.5(HPS1):c.610G>T (p.Glu204Ter) rs747607498
NM_000195.5(HPS1):c.665_666del (p.Tyr221_Ser222insTer)
NM_000195.5(HPS1):c.668+1G>A
NM_000195.5(HPS1):c.669-1G>C
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.689G>A (p.Arg230His) rs377752969
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) rs1450596874
NM_000195.5(HPS1):c.721del (p.Val241fs)
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.807del (p.Val270fs)
NM_000195.5(HPS1):c.808G>A (p.Val270Met) rs145364430
NM_000195.5(HPS1):c.81del (p.Arg27_Leu28insTer) rs1938751649
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) rs374679558
NM_000195.5(HPS1):c.845_848delinsTGT (p.Thr282fs)
NM_000195.5(HPS1):c.847G>C (p.Gly283Arg) rs11592273
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
NM_000195.5(HPS1):c.937G>A (p.Gly313Ser) rs962689701
NM_000195.5(HPS1):c.961G>T (p.Gly321Cys) rs551074257
NM_000195.5(HPS1):c.962del (p.Gly321fs) rs281865081
NM_000195.5(HPS1):c.962dup (p.Thr322fs) rs281865081
NM_000195.5(HPS1):c.968C>G (p.Pro323Arg) rs886046592
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.987+1G>A
NM_000195.5(HPS1):c.988-44_1023delinsT rs1591055649
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
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.1060_1061delinsAG (p.Ser354=) rs386820399
NM_022081.6(HPS4):c.1088_1101del (p.Leu363fs) rs773968140
NM_022081.6(HPS4):c.1090C>T (p.Gln364Ter)
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022081.6(HPS4):c.1156del (p.His386fs)
NM_022081.6(HPS4):c.128C>A (p.Ser43Tyr) rs2091003499
NM_022081.6(HPS4):c.132+1G>A
NM_022081.6(HPS4):c.133-1G>A
NM_022081.6(HPS4):c.133-2A>G
NM_022081.6(HPS4):c.133-2A>T
NM_022081.6(HPS4):c.1330G>T (p.Glu444Ter)
NM_022081.6(HPS4):c.1409T>G (p.Leu470Ter)
NM_022081.6(HPS4):c.148C>T (p.Gln50Ter) rs372020804
NM_022081.6(HPS4):c.1535C>T (p.Ser512Leu) rs150216540
NM_022081.6(HPS4):c.1546C>T (p.Gln516Ter)
NM_022081.6(HPS4):c.1670C>G (p.Ala557Gly)
NM_022081.6(HPS4):c.1767_1768del (p.Leu590fs)
NM_022081.6(HPS4):c.177A>C (p.Gly59=) rs886057320
NM_022081.6(HPS4):c.1873C>T (p.Gln625Ter)
NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.6(HPS4):c.1924C>T (p.Gln642Ter)
NM_022081.6(HPS4):c.1966_1967dup (p.Ala657fs) rs752827715
NM_022081.6(HPS4):c.2054del (p.Pro685fs) rs2146241760
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) rs281865100
NM_022081.6(HPS4):c.232A>T (p.Arg78Ter)
NM_022081.6(HPS4):c.272T>C (p.Leu91Pro) rs2146925564
NM_022081.6(HPS4):c.316A>T (p.Lys106Ter)
NM_022081.6(HPS4):c.348dup (p.Asn117Ter)
NM_022081.6(HPS4):c.357C>G (p.Tyr119Ter)
NM_022081.6(HPS4):c.381_382del (p.Tyr127_Glu128delinsTer)
NM_022081.6(HPS4):c.41+1_41+3del
NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.6(HPS4):c.412del (p.Glu138fs)
NM_022081.6(HPS4):c.42-2A>C
NM_022081.6(HPS4):c.42-2A>G
NM_022081.6(HPS4):c.430G>T (p.Glu144Ter)
NM_022081.6(HPS4):c.446del (p.Asn149fs)
NM_022081.6(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.6(HPS4):c.47del (p.Asn16fs)
NM_022081.6(HPS4):c.502-2A>T
NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.6(HPS4):c.554G>A (p.Arg185His)
NM_022081.6(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.6(HPS4):c.608C>T (p.Thr203Ile) rs886057319
NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.6(HPS4):c.669+1G>A
NM_022081.6(HPS4):c.673_686del
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
NM_022081.6(HPS4):c.758_759dup (p.Glu254fs)
NM_022081.6(HPS4):c.834_865del (p.Asp278fs)
NM_022081.6(HPS4):c.844C>T (p.Gln282Ter)

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