List of variants reported as pathogenic for hematologic disorder by Laboratoire de Génétique Moléculaire, CHU Bordeaux

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_181507.2(HPS5):c.719G>C (p.Arg240Pro)	rs764296457	0.00001
11p15.1 deletion
GRCh37/hg19 6p24.3(chr6:8023117-8042179)x0
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)	rs1816414644
NM_181507.2(HPS5):c.1417C>T (p.Gln473Ter)	rs1131692148
NM_181507.2(HPS5):c.1900del (p.Glu634fs)	rs1131692146
NM_181507.2(HPS5):c.219G>A (p.Arg73=)	rs1131692150
NM_181507.2(HPS5):c.2219T>C (p.Leu740Ser)	rs1131692149
NM_181507.2(HPS5):c.2750_2751del (p.Glu917fs)	rs1131692151
NM_181507.2(HPS5):c.2979_2982del (p.Cys993fs)	rs886041723
NM_181507.2(HPS5):c.3058+3A>G	rs113304476
NM_181507.2(HPS5):c.3096_3098del (p.Leu1033del)	rs753928208
NM_181507.2(HPS5):c.818_822del (p.Thr273fs)	rs1131692147
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)	rs1763106978
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs)	rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs)	rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del)	rs754841982

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