ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome

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Total variants: 16
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HGVS dbSNP
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_007216.4(HPS5):c.201del (p.Gln67fs) rs755827664
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_024747.5(HPS6):c.155del (p.Val52fs) rs1590262450
NM_024747.5(HPS6):c.1624del (p.Asp542fs) rs1590263807
NM_024747.5(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024747.5(HPS6):c.283del (p.Val95fs) rs1564899012
NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs) rs752074481
NM_032383.5(HPS3):c.1163+1G>A rs201227603
NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter) rs753185316
NM_032383.5(HPS3):c.2814dup (p.Leu939fs) rs1576708708
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)

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