List of variants in gene SRP54 studied for constitutional neutropenia

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_003136.4(SRP54):c.1327+16_1327+32del	rs369856554	0.16649
NM_003136.4(SRP54):c.636A>C (p.Ile212=)	rs140228686	0.00113
NM_003136.4(SRP54):c.1008T>A (p.Phe336Leu)
NM_003136.4(SRP54):c.337G>C (p.Gly113Arg)	rs1594996301
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)	rs1555354200
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)	rs1555354198
NM_003136.4(SRP54):c.549T>A (p.Asn183Lys)
NM_003136.4(SRP54):c.668C>A (p.Ala223Asp)	rs1595004126
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)	rs1555354750
NM_003136.4(SRP54):c.821G>A (p.Gly274Asp)	rs1595004676

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