ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373 0.91917
NM_022081.6(HPS4):c.*1613C>A rs3752589 0.88461
NM_022081.6(HPS4):c.-296T>C rs5761557 0.88308
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.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.81665
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047 0.72384
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589 0.50726
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_181507.2(HPS5):c.*464C>A rs1046611 0.35745
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_181507.2(HPS5):c.*475C>T rs1046615 0.33956
NM_181507.2(HPS5):c.*299C>T rs12419588 0.33793
NM_181507.2(HPS5):c.*300T>C rs12416821 0.33782
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29901
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23948
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_181507.2(HPS5):c.3058+9A>G rs2049129 0.20713
NM_024747.6(HPS6):c.*178T>G rs3816 0.19913
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18606
NM_181507.2(HPS5):c.*804C>T rs1046628 0.17195
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15600
NM_181507.2(HPS5):c.1165-15C>A rs7128146 0.13983
NM_181507.1(HPS5):c.-251C>A rs4150530 0.13814
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017 0.13791
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
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_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
NM_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_181507.2(HPS5):c.*1068T>A rs112456564 0.02934
NM_181507.2(HPS5):c.*443T>A rs74602396 0.02922
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02580
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_032383.5(HPS3):c.-70T>C rs13089410 0.02214
NM_181507.2(HPS5):c.*702A>T rs79086536 0.01805
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_003664.5(AP3B1):c.2810-4C>T rs115340604 0.01015
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_003664.5(AP3B1):c.*379A>G rs115124715 0.00669
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_024747.6(HPS6):c.698T>G (p.Leu233Arg) rs36078476 0.00592
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866 0.00508
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223 0.00297
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
NM_003664.5(AP3B1):c.*44G>A rs182487478 0.00174
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00125
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083 0.00070
NM_181507.2(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179 0.00056
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_000096.4(CP):c.*828dup rs35907111
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.847G>T (p.Gly283Trp) rs11592273
NM_003664.5(AP3B1):c.280-6dup rs5868908
NM_012388.4(BLOC1S6):c.*2818ACAA[6] rs376870196
NM_022081.6(HPS4):c.*1229CG[4] rs10573454
NM_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_032383.5(HPS3):c.2887+19dup rs397710976

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.