List of variants in gene HYOU1 studied for Granulocytopenia with immunoglobulin abnormality

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_006389.5(HYOU1):c.1726+36A>G	rs673768	0.86764
NM_006389.5(HYOU1):c.2235A>G (p.Ala745=)	rs568922	0.77515
NM_006389.5(HYOU1):c.543C>T (p.Asn181=)	rs538478	0.38158
NM_006389.5(HYOU1):c.2031C>T (p.Val677=)	rs45450894	0.00389
NM_006389.5(HYOU1):c.2888-13C>G	rs115207968	0.00350
NM_006389.5(HYOU1):c.293G>A (p.Arg98His)	rs150918294	0.00009
NM_006389.5(HYOU1):c.1382G>C (p.Ser461Thr)	rs782622798
NM_006389.5(HYOU1):c.1527-20C>G
NM_006389.5(HYOU1):c.2053AAG[1] (p.Lys686del)
NM_006389.5(HYOU1):c.691T>C (p.Tyr231His)	rs1944619636
NM_006389.5(HYOU1):c.75C>G (p.Asp25Glu)	rs782426345

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