ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*474T>C
NM_000096.4(CP):c.*509A>C rs13098532
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*769G>A rs1053669
NM_000096.4(CP):c.*828dup rs35907111
NM_000195.5(HPS1):c.*1167G>A rs1061437
NM_000195.5(HPS1):c.*1215C>T rs3830024
NM_000195.5(HPS1):c.*1217T>C rs3830025
NM_000195.5(HPS1):c.*1326C>A rs146022441
NM_000195.5(HPS1):c.*272C>T rs1061115
NM_000195.5(HPS1):c.*324T>C rs1061123
NM_000195.5(HPS1):c.*452G>A rs701801
NM_000195.5(HPS1):c.*460C>T rs114794063
NM_000195.5(HPS1):c.*473G>A rs3830019
NM_000195.5(HPS1):c.*694C>T rs7075480
NM_000195.5(HPS1):c.*706C>G rs3830020
NM_000195.5(HPS1):c.*916G>A rs114082441
NM_000195.5(HPS1):c.*955A>G rs1737
NM_000195.5(HPS1):c.*982T>C rs1739
NM_000195.5(HPS1):c.-105-9C>T rs2296429
NM_000195.5(HPS1):c.-51C>A rs1804689
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.1397+7G>C rs2296432
NM_000195.5(HPS1):c.1397+8G>T rs2296433
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.1599-15A>G rs2296435
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260
NM_000195.5(HPS1):c.255+9A>G rs78927693
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192
NM_000195.5(HPS1):c.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.987+13T>C rs12571249
NM_001349896.1(HPS4):c.-253C>T rs3747134
NM_001349896.1(HPS4):c.-296T>C rs5761557
NM_001349896.1(HPS4):c.-479+16C>T rs115916720
NM_001349896.1(HPS4):c.-571G>T rs968425
NM_003664.4(AP3B1):c.*107T>A rs11552314
NM_003664.4(AP3B1):c.*379A>G rs115124715
NM_003664.4(AP3B1):c.1040+9T>A rs201876461
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1168-9C>T rs367648410
NM_003664.4(AP3B1):c.1367T>C (p.Ile456Thr) rs536306260
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.2042A>G (p.Glu681Gly) rs113301033
NM_003664.4(AP3B1):c.2112C>T (p.Gly704=) rs35976098
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2585C>T (p.Thr862Ile) rs146624866
NM_003664.4(AP3B1):c.2730T>C (p.Thr910=) rs143527588
NM_003664.4(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003664.4(AP3B1):c.280-14dup rs5868908
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311
NM_003664.4(AP3B1):c.2995G>A (p.Val999Met) rs146503597
NM_003664.4(AP3B1):c.3207G>A (p.Gln1069=) rs34089426
NM_003664.4(AP3B1):c.402C>T (p.Ser134=) rs144761256
NM_003664.5(AP3B1):c.*44G>A
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu) rs6453373
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu) rs139344924
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052
NM_003664.5(AP3B1):c.3020_3022CTG[1] (p.Ala1008del) rs111935323
NM_003664.5(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.5(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_012388.3(BLOC1S6):c.*1124G>T rs111954968
NM_012388.3(BLOC1S6):c.*171A>T rs60561729
NM_012388.3(BLOC1S6):c.*2209T>C rs7183382
NM_012388.3(BLOC1S6):c.*2404C>T rs13376
NM_012388.3(BLOC1S6):c.*2818_*2821ACAA[6] rs376870196
NM_012388.3(BLOC1S6):c.34G>A (p.Ala12Thr) rs145762743
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_024747.5(HPS6):c.*178T>G rs3816
NM_024747.5(HPS6):c.1764G>A (p.Gln588=) rs145597717
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024747.5(HPS6):c.444C>G (p.Ala148=) rs533784966
NM_024747.5(HPS6):c.698T>G (p.Leu233Arg) rs36078476
NM_024747.6(HPS6):c.1692C>T (p.Pro564=) rs147449083
NM_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243
NM_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032122.5(DTNBP1):c.-18A>G rs11558324
NM_032122.5(DTNBP1):c.356-7C>T rs3829893
NM_032383.5(HPS3):c.*128A>G rs73019023
NM_032383.5(HPS3):c.*172G>A rs34511277
NM_032383.5(HPS3):c.-70T>C rs13089410
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.1494G>A (p.Gln498=) rs6440589
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088
NM_032383.5(HPS3):c.2887+19dup rs397710976
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908
NM_152841.2(HPS4):c.*1229_*1230CG[4] rs10573454
NM_152841.2(HPS4):c.*1250C>T rs7291576
NM_152841.2(HPS4):c.*1387T>A
NM_152841.2(HPS4):c.*1613C>A rs3752589
NM_152841.2(HPS4):c.*1687A>G rs3752588
NM_152841.2(HPS4):c.*1962C>T
NM_152841.2(HPS4):c.*2269A>G
NM_152841.2(HPS4):c.1045T>A (p.Ser349Thr) rs114685298
NM_152841.2(HPS4):c.1046C>G (p.Ser349Cys) rs116769827
NM_152841.2(HPS4):c.1312C>G (p.Leu438Val) rs2014410
NM_152841.2(HPS4):c.1639G>A (p.Val547Met) rs5752330
NM_152841.2(HPS4):c.1801C>T (p.His601Tyr) rs1894706
NM_152841.2(HPS4):c.1860G>T (p.Gln620His) rs1894704
NM_152841.2(HPS4):c.2064C>T (p.Ser688=) rs138189133
NM_152841.2(HPS4):c.671A>G (p.Glu224Gly) rs713998
NM_152841.2(HPS4):c.726T>A (p.Pro242=) rs35126034
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*299C>T rs12419588
NM_181507.1(HPS5):c.*300T>C rs12416821
NM_181507.1(HPS5):c.*443T>A rs74602396
NM_181507.1(HPS5):c.*464C>A rs1046611
NM_181507.1(HPS5):c.*475C>T rs1046615
NM_181507.1(HPS5):c.*702A>T rs79086536
NM_181507.1(HPS5):c.*804C>T rs1046628
NM_181507.1(HPS5):c.-142C>T rs4150528
NM_181507.1(HPS5):c.-250G>T rs4150529
NM_181507.1(HPS5):c.-251C>A rs4150530
NM_181507.1(HPS5):c.-91C>G rs4150527
NM_181507.1(HPS5):c.2441-8T>C rs144196437
NM_181507.1(HPS5):c.3229C>T (p.Arg1077Trp) rs75482179
NM_181507.2(HPS5):c.1165-15C>A rs7128146
NM_181507.2(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.2(HPS5):c.1635-4C>G rs79009787
NM_181507.2(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.2(HPS5):c.3058+9A>G rs2049129
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_181507.2(HPS5):c.822C>A (p.Leu274=) rs1140047

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