ClinVar Miner

List of variants reported as likely benign for Hermansky-Pudlak syndrome by Natera, Inc.

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_032383.5(HPS3):c.51C>T (p.Pro17=) rs141883346 0.00097
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00054
NM_000195.5(HPS1):c.926A>G (p.Asp309Gly) rs141366997 0.00043
NM_032383.5(HPS3):c.158A>G (p.Gln53Arg) rs199663930 0.00036
NM_032383.5(HPS3):c.2364A>G (p.Ala788=) rs149563235 0.00034
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met) rs148168280 0.00024
NM_000195.5(HPS1):c.1801C>T (p.Leu601=) rs368146160 0.00020
NM_032383.5(HPS3):c.1769G>A (p.Arg590His) rs145158238 0.00017
NM_000195.5(HPS1):c.1286G>A (p.Arg429His) rs201728087 0.00015
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr) rs142027515 0.00014
NM_000195.5(HPS1):c.1409C>T (p.Ala470Val) rs768146409 0.00012
NM_032383.5(HPS3):c.2469A>G (p.Thr823=) rs370137287 0.00010
NM_000195.5(HPS1):c.179C>T (p.Thr60Met) rs200004304 0.00009
NM_032383.5(HPS3):c.1228A>G (p.Met410Val) rs756295432 0.00008
NM_000195.5(HPS1):c.90C>T (p.Phe30=) rs765362355 0.00007
NM_032383.5(HPS3):c.719G>A (p.Ser240Asn) rs750402363 0.00006
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000195.5(HPS1):c.1940+9G>A rs757142456 0.00004
NM_000195.5(HPS1):c.204C>T (p.Thr68=) rs149759513 0.00004
NM_032383.5(HPS3):c.957C>G (p.Pro319=) rs751233801 0.00004
NM_032383.5(HPS3):c.2634G>A (p.Pro878=) rs147593958 0.00003
NM_000195.5(HPS1):c.1896C>T (p.Ser632=) rs760508807 0.00002
NM_000195.5(HPS1):c.1245C>T (p.Pro415=) rs879797527 0.00001
NM_000195.5(HPS1):c.2037G>A (p.Leu679=) rs773611107 0.00001
NM_032383.5(HPS3):c.2181C>T (p.Thr727=) rs573058813 0.00001
NM_000195.5(HPS1):c.1531C>A (p.Arg511=) rs147748659
NM_000195.5(HPS1):c.198G>C (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.847G>A (p.Gly283Arg) rs11592273
NM_032383.5(HPS3):c.2479C>T (p.Leu827=) rs773017257

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