List of variants reported as likely pathogenic for hematologic disorder by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter)	rs373272174	0.00002
NM_000195.5(HPS1):c.1276_1279dup (p.Asp427fs)	rs1303126934
NM_000195.5(HPS1):c.875_878del (p.Asp292fs)	rs1846105381
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)	rs1643667928
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)	rs1570829502
NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter)	rs940319528
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)	rs2067964057

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