ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_022081.6(HPS4):c.*477C>T rs76496430 0.00851
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00297
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) rs200459002 0.00091
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro) rs150000996 0.00088
NM_000195.5(HPS1):c.1897G>A (p.Asp633Asn) rs150740880 0.00049
NM_000195.5(HPS1):c.473G>A (p.Arg158His) rs140480324 0.00036
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp) rs141102178 0.00032
NM_000195.5(HPS1):c.15G>C (p.Leu5Phe) rs146695034 0.00031
NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr) rs201113371 0.00031
NM_000195.5(HPS1):c.1796C>T (p.Thr599Met) rs201076763 0.00030
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
NM_000195.5(HPS1):c.118-19T>A rs758750874 0.00020
NM_022081.6(HPS4):c.834T>A (p.Asp278Glu) rs139107954 0.00020
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_001261826.3(AP3D1):c.2001+6C>T rs376715473 0.00017
NM_000195.5(HPS1):c.1067A>C (p.Asn356Thr) rs374389539 0.00016
NM_032122.5(DTNBP1):c.512-16T>C rs112527545 0.00016
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu) rs201886263 0.00015
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg) rs948696809 0.00014
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala) rs141789572 0.00013
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_000195.5(HPS1):c.507+15C>T rs374761960 0.00010
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.1951C>T (p.Arg651Cys) rs375322422 0.00009
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260 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_032122.5(DTNBP1):c.355+10A>G rs368923800 0.00006
NM_032383.5(HPS3):c.159G>T (p.Gln53His) rs774480483 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_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
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.389T>C (p.Ile130Thr) rs367640909 0.00004
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly) rs554863664 0.00004
NM_012388.4(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803 0.00004
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.692C>T (p.Pro231Leu) rs773953162 0.00003
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala) rs148160411 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
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.2052C>T (p.Ala684=) rs576260502 0.00002
NM_000195.5(HPS1):c.355del (p.His119fs) rs281865075 0.00002
NM_000195.5(HPS1):c.940A>G (p.Ser314Gly) rs979661361 0.00002
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu) rs1424373279 0.00002
NM_022081.6(HPS4):c.2041G>A (p.Gly681Ser) rs149568178 0.00002
NM_022081.6(HPS4):c.877C>G (p.Leu293Val) rs886057317 0.00002
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
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.1383C>T (p.Pro461=) rs763241171 0.00001
NM_000195.5(HPS1):c.1398-9C>T rs773047618 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.1807C>T (p.Gln603Ter) rs886077189 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.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.570C>T (p.His190=) rs1028581867 0.00001
NM_000195.5(HPS1):c.776C>T (p.Pro259Leu) rs745797275 0.00001
NM_000195.5(HPS1):c.867+11T>C rs745977366 0.00001
NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=) rs767889885 0.00001
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu) rs759296897 0.00001
NM_032122.5(DTNBP1):c.324C>T (p.Ile108=) rs367543105 0.00001
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) rs564959505 0.00001
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu) rs1021933564 0.00001
NM_000195.5(HPS1):c.1118C>A (p.Pro373His) rs945250747
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1239G>A (p.Pro413=) rs777125097
NM_000195.5(HPS1):c.1427G>C (p.Arg476Pro) rs757853476
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs) rs758028806
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1533-17C>T rs187227619
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.198G>C (p.Ser66=) rs115265574
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.233_242del (p.Asn78fs) rs773323079
NM_000195.5(HPS1):c.316C>T (p.Arg106Trp) rs376557022
NM_000195.5(HPS1):c.467_476del (p.Tyr156fs) rs1846922474
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000195.5(HPS1):c.699C>A (p.Asp233Glu) rs1450596874
NM_000195.5(HPS1):c.780dup (p.Arg261fs) rs2136197089
NM_000195.5(HPS1):c.83T>A (p.Leu28Gln) rs374679558
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.961G>T (p.Gly321Cys) rs551074257
NM_000195.5(HPS1):c.972del (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter) rs1746480237
NM_003664.5(AP3B1):c.705T>C (p.Asp235=) rs779084730
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly) rs147761913
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) rs544314793
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625

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