ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_181507.2(HPS5):c.1785-13C>T rs73430857 0.02128
NM_181507.2(HPS5):c.139T>C (p.Leu47=) rs73432728 0.02127
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_032383.5(HPS3):c.*170C>T rs182666670 0.00795
NM_181507.2(HPS5):c.2441-8T>C rs144196437 0.00708
NM_032383.5(HPS3):c.823G>A (p.Glu275Lys) rs34388030 0.00590
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_181507.2(HPS5):c.345G>A (p.Met115Ile) rs149229493 0.00309
NM_032383.5(HPS3):c.2055G>A (p.Leu685=) rs140443498 0.00300
NM_024747.6(HPS6):c.1779G>A (p.Pro593=) rs77529785 0.00228
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala) rs200584437 0.00183
NM_181507.2(HPS5):c.*70C>T rs371535842 0.00087
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_181507.2(HPS5):c.*688A>G rs145507598 0.00024
NM_181507.2(HPS5):c.*362G>A rs148862838 0.00021
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys) rs143204089 0.00019
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_032383.5(HPS3):c.1773G>A (p.Thr591=) rs559550536 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_181507.2(HPS5):c.240C>T (p.Val80=) rs138423875 0.00006
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys) rs543058717 0.00002
NM_024747.6(HPS6):c.105T>C (p.Arg35=) rs573488604 0.00001
NM_032383.5(HPS3):c.2967T>C (p.Phe989=) rs1170514296 0.00001
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser) rs547880287 0.00001

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