ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 4

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Total variants: 17
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HPS4, 1-BP DEL, C, CODON 685
NM_022081.5(HPS4):c.1866del (p.Thr623fs) rs281865099
NM_022081.5(HPS4):c.1883G>A (p.Arg628His) rs78892693
NM_022081.5(HPS4):c.1891C>T (p.Gln631Ter) rs119471021
NM_022081.5(HPS4):c.2084_2088AAGCA[3] (p.Lys699fs) rs281865100
NM_022081.5(HPS4):c.250A>G (p.Ile84Val) rs149830675
NM_022081.5(HPS4):c.412G>T (p.Glu138Ter) rs119471024
NM_022081.5(HPS4):c.461A>G (p.His154Arg) rs281865098
NM_022081.5(HPS4):c.541C>T (p.Gln181Ter) rs119471022
NM_022081.5(HPS4):c.57del (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.57dup (p.Leu20fs) rs281865097
NM_022081.5(HPS4):c.649C>T (p.Arg217Ter) rs119471023
NM_022081.5(HPS4):c.664G>T (p.Glu222Ter) rs119471025
NM_022081.5(HPS4):c.710C>T (p.Ala237Val) rs77597168
NM_022081.5(HPS4):c.751A>T (p.Thr251Ser) rs34962745
NM_022081.5(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164
NM_152841.2(HPS4):c.1045_1046delinsAG (p.Ser349=) rs386820399

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