ClinVar Miner

List of variants in gene HPS1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_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.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_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_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_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00761
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
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_000195.5(HPS1):c.1532+5G>A rs199874645 0.00273
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
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_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
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_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
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_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 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_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_000195.5(HPS1):c.-91T>A rs542654066 0.00024
NM_000195.5(HPS1):c.507+13C>T rs371779884 0.00022
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
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_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_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000195.5(HPS1):c.507+15C>T rs374761960 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_000195.5(HPS1):c.2066G>A (p.Arg689Gln) rs147125175 0.00007
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.447C>T (p.Phe149=) rs564896584 0.00006
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_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
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_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.1940+9G>A rs757142456 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_000195.5(HPS1):c.9C>T (p.Cys3=) rs750909242 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.1398-8G>A rs375009475 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.387T>C (p.Leu129=) rs777005528 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_000195.5(HPS1):c.924C>T (p.Gly308=) rs747955942 0.00003
NM_000195.5(HPS1):c.960G>A (p.Gly320=) rs894529827 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.1667C>T (p.Ala556Val) rs200239872 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.303C>T (p.Ser101=) rs769932435 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_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.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.1285C>T (p.Arg429Cys) rs770233681 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.1431G>A (p.Gln477=) rs747509165 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.1645C>T (p.Arg549Cys) rs747984964 0.00001
NM_000195.5(HPS1):c.1744-2A>C rs281865088 0.00001
NM_000195.5(HPS1):c.1787G>T (p.Gly596Val) rs139951191 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.1996G>A (p.Glu666Lys) rs121908385 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.472C>T (p.Arg158Cys) rs727505003 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.741C>T (p.Ser247=) rs772319786 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.819C>T (p.Ala273=) rs775779922 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_000195.5(HPS1):c.973A>G (p.Met325Val) rs1406192587 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
GRCh37/hg19 10q24.2(chr10:100202251-100203482)
NM_000195.4(HPS1):c.1602_1605delCCTA
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.*1215_*1217delinsTCC rs386746903
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.1107G>A (p.Met369Ile) rs374952573
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1138_1139dup (p.Val381fs)
NM_000195.5(HPS1):c.1156-8A>C rs1845516768
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.1342T>C (p.Trp448Arg) rs1591045080
NM_000195.5(HPS1):c.1375del (p.Ser459fs) rs281865086
NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) rs786205464
NM_000195.5(HPS1):c.1398-1G>A
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.1507C>T (p.Gln503Ter) rs748888649
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.159G>T (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1620_1624del (p.Leu541fs)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000195.5(HPS1):c.1646G>A (p.Arg549His) rs753635327
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.1709G>C (p.Gly570Ala) rs1314012716
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.1855A>G (p.Met619Val) rs1844649182
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.1937A>G (p.Tyr646Cys) rs1467653379
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.2001_2003delinsCCC (p.Leu668Pro)
NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) rs281865090
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.2056C>T (p.Gln686Ter) rs1591002808
NM_000195.5(HPS1):c.2095dup (p.Leu699fs)
NM_000195.5(HPS1):c.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.238del (p.Leu80fs) rs1453977337
NM_000195.5(HPS1):c.268C>G (p.Leu90Val) rs1847174036
NM_000195.5(HPS1):c.298G>T (p.Glu100Ter)
NM_000195.5(HPS1):c.307G>T (p.Gly103Trp) rs771121322
NM_000195.5(HPS1):c.316C>G (p.Arg106Gly) rs376557022
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+2T>G
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.399-14G>A rs1260083432
NM_000195.5(HPS1):c.410del (p.Pro137fs)
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.515A>G (p.Glu172Gly) rs1591093208
NM_000195.5(HPS1):c.520del (p.Arg173_Leu174insTer)
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.614A>G (p.Glu205Gly) rs565505287
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.723T>A (p.Val241=) rs1846304734
NM_000195.5(HPS1):c.766C>T (p.Gln256Ter)
NM_000195.5(HPS1):c.769-14_834del
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>A (p.Gly283Arg) rs11592273
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.847_848delinsTA (p.Gly283Ter)
NM_000195.5(HPS1):c.850G>A (p.Gly284Arg) rs1846147269
NM_000195.5(HPS1):c.852del (p.Ser285fs) rs757883936
NM_000195.5(HPS1):c.875_878del (p.Asp292fs) rs1846105381
NM_000195.5(HPS1):c.904_917dup (p.Pro307fs)
NM_000195.5(HPS1):c.908C>A (p.Pro303Gln)
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter) rs748939090
NM_000195.5(HPS1):c.937+1G>A
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.97_100del (p.Ser33fs) rs2136327710
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

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