ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome by Laboratoire de Génétique Moléculaire,CHU Bordeéaux

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
11p15.1 deletion
NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) rs1131692148
NM_181507.1(HPS5):c.1900delG (p.Glu634Serfs) rs1131692146
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.2750_2751delAG (p.Glu917Valfs) rs1131692151
NM_181507.1(HPS5):c.2979_2982delTTTG (p.Cys993Trpfs) rs886041723
NM_181507.1(HPS5):c.3058+3A>G rs113304476
NM_181507.1(HPS5):c.3096_3098delCCT (p.Leu1033del) rs753928208
NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) rs764296457
NM_181507.1(HPS5):c.818_822delCTCTC (p.Thr273Lysfs) rs1131692147

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