ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP
NM_000096.4(CP):c.*1157C>T rs11537809
NM_000096.4(CP):c.*137C>T rs34228141
NM_000096.4(CP):c.*768T>C rs35805816
NM_000096.4(CP):c.*879A>C rs144029944
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.4(CP):c.3182-4A>G rs34272112
NM_000195.5(HPS1):c.*1326C>A rs146022441
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.-105-9C>T rs2296429
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
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.159G>A (p.Pro53=) rs78504928
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.297C>T (p.Thr99=) rs11539873
NM_000195.5(HPS1):c.847G>T (p.Gly283Trp) rs11592273
NM_000195.5(HPS1):c.987+13T>C rs12571249
NM_001271769.2(AP3B1):c.*588A>G rs114954951
NM_001271769.2(AP3B1):c.2873_2875CTG[1] (p.Ala959del) rs111935323
NM_003664.4(AP3B1):c.1069A>G (p.Ile357Val) rs142025324
NM_003664.4(AP3B1):c.1116G>C (p.Leu372=) rs76433453
NM_003664.4(AP3B1):c.1683C>T (p.Leu561=) rs17192146
NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) rs115892142
NM_003664.4(AP3B1):c.1969-10G>A rs77009095
NM_003664.4(AP3B1):c.2310C>T (p.Asp770=) rs142938290
NM_003664.4(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050
NM_003664.4(AP3B1):c.2340C>T (p.Ser780=) rs199599147
NM_003664.4(AP3B1):c.2409_2411del (p.Lys804del) rs199702315
NM_003664.4(AP3B1):c.2810-4C>T rs115340604
NM_003664.4(AP3B1):c.339A>C (p.Ala113=) rs7706167
NM_003664.4(AP3B1):c.687A>G (p.Leu229=) rs35496909
NM_003664.4(AP3B1):c.942G>A (p.Ala314=) rs146871001
NM_012388.3(BLOC1S6):c.*1706G>A rs7181436
NM_012388.3(BLOC1S6):c.*188T>C rs58509170
NM_012388.3(BLOC1S6):c.*797T>A rs11638237
NM_012388.3(BLOC1S6):c.-153G>A rs115857479
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.82+10A>G rs370370639
NM_022081.5(HPS4):c.*1589C>A rs117397456
NM_022081.5(HPS4):c.-530A>G rs3747137
NM_022081.5(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.5(HPS4):c.1061C>G (p.Ser354Cys) rs116769827
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.1899C>T (p.Val633=) rs35993959
NM_022081.5(HPS4):c.2079C>T (p.Ser693=) rs138189133
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.558G>A (p.Ser186=) rs13054747
NM_022081.5(HPS4):c.696G>A (p.Pro232=) rs3747132
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
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.516G>A (p.Gly172=) rs3737243
NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) rs200584437
NM_024747.5(HPS6):c.99A>G (p.Arg33=) rs139591041
NM_032122.4(DTNBP1):c.*105A>G rs1047631
NM_032122.4(DTNBP1):c.667+2C>T rs61739410
NM_032122.4(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454
NM_032122.4(DTNBP1):c.874A>G (p.Arg292Gly) rs73369534
NM_032122.4(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982
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.1479G>A (p.Thr493=) rs34197730
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032383.5(HPS3):c.970+7A>G rs114029765
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399
NM_181507.1(HPS5):c.*1068T>A rs112456564
NM_181507.1(HPS5):c.*443T>A rs74602396
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.1165-15C>A rs7128146
NM_181507.1(HPS5):c.1249C>A (p.Leu417Met) rs7128017
NM_181507.1(HPS5):c.139T>C (p.Leu47=) rs73432728
NM_181507.1(HPS5):c.1635-4C>G rs79009787
NM_181507.1(HPS5):c.1785-13C>T rs73430857
NM_181507.1(HPS5):c.240C>T (p.Val80=) rs138423875
NM_181507.1(HPS5):c.2537C>T (p.Pro846Leu) rs144875223
NM_181507.1(HPS5):c.3045G>A (p.Met1015Ile) rs61755718
NM_181507.1(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288
NM_212550.4(BLOC1S3):c.*1086G>A rs116251719
NM_212550.4(BLOC1S3):c.*1286T>C rs79968982
NM_212550.4(BLOC1S3):c.*1471C>T rs73939649
NM_212550.4(BLOC1S3):c.*1700G>A rs76151738
NM_212550.4(BLOC1S3):c.*1746C>G rs74798348
NM_212550.4(BLOC1S3):c.*1905T>C rs78979751
NM_212550.4(BLOC1S3):c.*285T>A rs6509200
NM_212550.4(BLOC1S3):c.*426C>G rs142584236
NM_212550.4(BLOC1S3):c.*465A>T rs115683085
NM_212550.4(BLOC1S3):c.*946C>T rs111903160
NM_212550.4(BLOC1S3):c.-10+4C>G rs116105443
NM_212550.4(BLOC1S3):c.-57A>T rs116448245
NM_212550.4(BLOC1S3):c.-71G>A rs59215448
NM_212550.4(BLOC1S3):c.-73A>C rs8104024
NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) rs182286598
NM_212550.4(BLOC1S3):c.270G>A (p.Ala90=) rs758506

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