ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
NM_000195.4(HPS1):c.1602_1605delCCTA
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
NM_000195.5(HPS1):c.1932del (p.Tyr645fs) rs1239621485
NM_000195.5(HPS1):c.398+5G>A rs281865077
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
NM_003664.5(AP3B1):c.1651-2A>T
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs) rs2140918991
NM_022081.6(HPS4):c.1132C>T (p.Gln378Ter) rs369053765
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter) rs150216540
NM_022081.6(HPS4):c.1713+1G>A rs2146534178
NM_022081.6(HPS4):c.803+1G>A
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter) rs1220869113
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
NM_024747.6(HPS6):c.229_232del (p.Ser77fs) rs2136333814
NM_024747.6(HPS6):c.368del (p.Gly123fs)
NM_024747.6(HPS6):c.60_64dup (p.Leu22fs) rs752399257
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter) rs2136334244
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2837+1G>A
NM_181507.2(HPS5):c.478-2A>G
NM_181507.2(HPS5):c.739dup (p.Glu247fs)

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