ClinVar Miner

List of variants in gene HPS5 reported as pathogenic for Hermansky-Pudlak syndrome 5

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Total variants: 21
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11p15.1 deletion
NM_007216.4(HPS5):c.1081del (p.Leu361fs) rs766602179
NM_007216.4(HPS5):c.1558del (p.Glu520fs) rs1131692146
NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) rs281865103
NM_007216.4(HPS5):c.2282del (p.Leu761fs) rs281865105
NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) rs1131692151
NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) rs397507169
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_007216.4(HPS5):c.537dup (p.Lys180fs) rs281865101
NM_181507.1(HPS5):c.107del (p.Lys36fs) rs1554948134
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) rs281865102
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.2593C>T (p.Arg865Ter) rs281865104
NM_181507.1(HPS5):c.285-10A>G rs200449378
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288

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