ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome without pulmonary fibrosis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
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_181507.2(HPS5):c.*464C>A rs1046611 0.35745
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_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
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_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_024747.6(HPS6):c.516G>A (p.Gly172=) rs3737243 0.07919
NM_032383.5(HPS3):c.1479G>A (p.Thr493=) rs34197730 0.03245
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_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg) rs78336249 0.01058
NM_024747.6(HPS6):c.1764G>A (p.Gln588=) rs145597717 0.00963
NM_181507.2(HPS5):c.-142C>T rs4150528 0.00903
NM_000096.4(CP):c.*509A>C rs13098532 0.00867
NM_181507.1(HPS5):c.-250G>T rs4150529 0.00728
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
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_181507.2(HPS5):c.-91C>G rs4150527 0.00513
NM_032383.5(HPS3):c.1366A>G (p.Ile456Val) rs149640235 0.00498
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_024747.6(HPS6):c.99A>G (p.Arg33=) rs139591041 0.00234
NM_181507.2(HPS5):c.1635-4C>G rs79009787 0.00184
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_032383.5(HPS3):c.2527G>A (p.Val843Ile) rs150765088 0.00002
NM_024747.6(HPS6):c.444C>G (p.Ala148=) rs533784966

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