ClinVar Miner

List of variants reported as benign for Hermansky-Pudlak syndrome with pulmonary fibrosis

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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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.1875G>T (p.Gln625His) rs1894704 0.86480
NM_022081.6(HPS4):c.1816C>T (p.His606Tyr) rs1894706 0.86290
NM_022081.6(HPS4):c.706+39G>T rs739289 0.83516
NM_022081.6(HPS4):c.707-28T>C rs3213583 0.83408
NM_022081.6(HPS4):c.1654G>A (p.Val552Met) rs5752330 0.82022
NM_022081.6(HPS4):c.686A>G (p.Glu229Gly) rs713998 0.81679
NM_022081.6(HPS4):c.-253C>T rs3747134 0.81120
NM_022081.5(HPS4):c.-662G>T rs968425 0.80578
NM_000195.5(HPS1):c.768+64A>G rs2296431 0.68203
NM_000195.5(HPS1):c.937+192T>C rs1061135 0.54034
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.*955A>G rs1737 0.46210
NM_000195.5(HPS1):c.*982T>C rs1739 0.45933
NM_022081.6(HPS4):c.*1962C>T rs5761533 0.44626
NM_000195.5(HPS1):c.*324T>C rs1061123 0.44036
NM_000195.5(HPS1):c.*272C>T rs1061115 0.43644
NM_000195.5(HPS1):c.*452G>A rs701801 0.39309
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.*1215C>T rs3830024 0.35027
NM_000195.5(HPS1):c.*1217T>C rs3830025 0.34581
NM_000195.5(HPS1):c.118-54A>T rs2296430 0.33514
NM_003664.5(AP3B1):c.*107T>A rs11552314 0.29471
NM_000195.5(HPS1):c.-51C>A rs1804689 0.28527
NM_032383.5(HPS3):c.981A>G (p.Thr327=) rs11718908 0.28006
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=) rs42360 0.23397
NM_000195.5(HPS1):c.1599-15A>G rs2296435 0.22327
NM_000195.5(HPS1):c.1397+7G>C rs2296432 0.20947
NM_000195.5(HPS1):c.1397+8G>T rs2296433 0.20935
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=) rs4532349 0.18393
NM_032383.5(HPS3):c.2526C>T (p.His842=) rs3732557 0.15919
NM_000195.5(HPS1):c.937+88C>T rs34533614 0.13676
NM_000195.5(HPS1):c.399-35G>A rs11591594 0.12488
NM_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
NM_000195.5(HPS1):c.1335+48G>A rs41317034 0.09953
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 0.02764
NM_032383.5(HPS3):c.970+7A>G rs114029765 0.02704
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01501
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 0.01022
NM_000195.5(HPS1):c.*460C>T rs114794063 0.00936
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00827
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00814
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_000195.5(HPS1):c.779G>A (p.Arg260Gln) rs56378825 0.00704
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser) rs34962745 0.00686
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
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_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00291
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000195.5(HPS1):c.1683C>T (p.Cys561=) rs112337765 0.00284
NM_000195.5(HPS1):c.1532+5G>A rs199874645 0.00256
NM_022081.6(HPS4):c.*1687A>G rs3752588 0.00207
NM_000195.5(HPS1):c.*1326C>A rs146022441 0.00195
NM_000195.5(HPS1):c.557C>T (p.Ala186Val) rs1801286 0.00194
NM_000195.5(HPS1):c.80G>A (p.Arg27Gln) rs116143727 0.00193
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_000195.5(HPS1):c.952C>G (p.Leu318Val) rs201808262 0.00076
NM_032383.5(HPS3):c.884+7T>C rs202215373 0.00058
NM_032383.5(HPS3):c.1152C>T (p.His384=) rs113381494 0.00055
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_032383.5(HPS3):c.2196C>T (p.His732=) rs148398659 0.00028
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00023
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502 0.00022
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_032383.5(HPS3):c.2887+18_2887+19dup rs397710976
NM_032383.5(HPS3):c.2887+19dup rs397710976

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