List of variants reported as likely pathogenic for hematologic disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)	rs140179844	0.00117
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	rs28897743
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)	rs2068606445
NM_000174.5(GP9):c.404G>T (p.Cys135Phe)	rs769561588
NM_000212.3(ITGB3):c.727G>C (p.Asp243His)	rs1598690937
NM_000552.5(VWF):c.5520dup (p.Gly1841fs)	rs1591858979
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)	rs1592380743
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)	rs1592109970
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)	rs1578999313
NM_001364905.1(LRBA):c.7850-1G>A	rs1729842757
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)	rs377659326
NM_006118.4(HAX1):c.463dup (p.Gln155fs)	rs1572018886
NM_014915.3(ANKRD26):c.2476G>T (p.Glu826Ter)	rs1589257502
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_024598.4(USB1):c.370T>C (p.Ser124Pro)	rs1597049287
NM_203447.4(DOCK8):c.882dup (p.Glu295fs)	rs1554668061

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