ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
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.-479+16C>T rs115916720
NM_152841.2(HPS4):c.*1250C>T rs7291576
NM_152841.2(HPS4):c.*1387T>A
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.2064C>T (p.Ser688=) rs138189133
NM_152841.2(HPS4):c.726T>A (p.Pro242=) rs35126034

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