List of variants in gene PI4KA, SERPIND1 studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)	rs5907	0.00161
NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu)	rs121912420	0.00001
NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)	rs563129167	0.00001
NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe)	rs773928062	0.00001
NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs)	rs587777760
NM_000185.4(SERPIND1):c.220dup (p.Glu74fs)	rs1244079448
NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)	rs5903
NM_000185.4(SERPIND1):c.321dup (p.Val108fs)	rs587777759
NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala)	rs1188993674
NM_000185.4(SERPIND1):c.557_558del (p.Phe186fs)

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