ClinVar Miner

List of variants reported as pathogenic for Hermansky-Pudlak syndrome 5 by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 11
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11p15.1 deletion
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) rs1131692151
NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) rs886041723
NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) rs753928208
NM_007216.4(HPS5):c.476_480del (p.Thr159fs) rs1131692147
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.219G>A (p.Arg73=) rs1131692150
NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) rs1131692149
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457

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