ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome without pulmonary fibrosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_181507.2(HPS5):c.3046G>A (p.Glu1016Lys) rs17853184 0.00144
NM_181507.2(HPS5):c.2525C>T (p.Pro842Leu) rs149039105 0.00025
NM_024747.6(HPS6):c.2260C>G (p.Leu754Val) rs202188533 0.00023
NM_181507.2(HPS5):c.2136T>A (p.Ser712Arg) rs149564550 0.00023
NM_024747.6(HPS6):c.1346C>G (p.Ser449Cys) rs141068948 0.00020
NM_181507.2(HPS5):c.1805G>A (p.Ser602Asn) rs142793392 0.00015
NM_181507.2(HPS5):c.1020G>T (p.Leu340Phe) rs149512871 0.00014
NM_024747.6(HPS6):c.692C>G (p.Pro231Arg) rs754025975 0.00009
NM_181507.2(HPS5):c.1940T>C (p.Leu647Ser) rs781166596 0.00008
NM_032383.5(HPS3):c.159G>T (p.Gln53His) rs774480483 0.00006
NM_032383.5(HPS3):c.1163+1G>A rs201227603 0.00005
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_181507.2(HPS5):c.1536G>A (p.Met512Ile) rs139349345 0.00003
NM_181507.2(HPS5):c.3059-10G>A rs764418389 0.00003
NM_024747.6(HPS6):c.1417G>A (p.Val473Met) rs542540023 0.00002
NM_181507.2(HPS5):c.1862+1G>A rs778500897 0.00002
NM_032383.5(HPS3):c.1838C>G (p.Ser613Ter) rs755083879 0.00001
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter) rs369855073 0.00001
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer) rs765169755 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_181507.2(HPS5):c.2066A>G (p.Glu689Gly) rs564959505 0.00001
NM_024747.6(HPS6):c.254C>T (p.Pro85Leu) rs544314793
NM_032383.5(HPS3):c.182T>C (p.Leu61Pro) rs2108112412
NM_032383.5(HPS3):c.2208_2209del (p.Gln737fs) rs745457191
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.660_661del (p.Arg220fs) rs1363164647
NM_181507.2(HPS5):c.1324-32dup rs369116404
NM_181507.2(HPS5):c.2077del (p.Arg693fs) rs746844529
NM_181507.2(HPS5):c.2928_2929dup (p.Thr977fs) rs397507169
NM_181507.2(HPS5):c.323G>T (p.Arg108Leu) rs201664625

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