ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
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_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_000195.5(HPS1):c.-51C>A rs1804689 0.27683
NM_000195.5(HPS1):c.636C>T (p.Leu212=) rs1801287 0.25851
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_000195.5(HPS1):c.1808A>G (p.Gln603Arg) rs2296436 0.09989
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_022081.6(HPS4):c.*1250C>T rs7291576 0.02974
NM_000195.5(HPS1):c.1767G>A (p.Ala589=) rs79218830 0.01605
NM_000195.5(HPS1):c.159G>A (p.Pro53=) rs78504928 0.01348
NM_000195.5(HPS1):c.-105-9C>T rs2296429 0.01268
NM_000195.5(HPS1):c.*460C>T rs114794063 0.01003
NM_000195.5(HPS1):c.255+9A>G rs78927693 0.00885
NM_022081.6(HPS4):c.*2269A>G rs147989849 0.00883
NM_022081.6(HPS4):c.1061C>G (p.Ser354Cys) rs116769827 0.00865
NM_022081.6(HPS4):c.-554C>T rs115916720 0.00769
NM_000195.5(HPS1):c.1698G>A (p.Ser566=) rs148450315 0.00596
NM_000195.5(HPS1):c.*916G>A rs114082441 0.00522
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
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 0.00125
NM_022081.6(HPS4):c.*1387T>A rs3752590 0.00082
NM_022081.6(HPS4):c.2079C>T (p.Ser693=) rs138189133 0.00002
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_022081.6(HPS4):c.1060T>A (p.Ser354Thr) rs114685298
NM_022081.6(HPS4):c.741T>A (p.Pro247=) rs35126034

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