List of variants in gene ELANE reported as benign for leukopenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001972.4(ELANE):c.390C>T (p.Asn130=)	rs17223045	0.02903
NM_001972.3(ELANE):c.-41C>A	rs17216614	0.00970
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)	rs17216656	0.00945
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)	rs17216663	0.00569
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)	rs17216670	0.00492
NM_001972.4(ELANE):c.99C>T (p.Gly33=)	rs17216628	0.00463
NM_001972.4(ELANE):c.171C>T (p.Ala57=)	rs201224981	0.00039
NM_001972.4(ELANE):c.654C>T (p.Phe218=)	rs148492780	0.00037
NM_001972.4(ELANE):c.16C>A (p.Arg6=)	rs182347433	0.00028
NM_001972.4(ELANE):c.68-15C>A	rs367875841	0.00026
NM_001972.4(ELANE):c.366+9G>A	rs200948740	0.00009
NM_001972.4(ELANE):c.396C>T (p.Asn132=)	rs144441259	0.00006
NM_001972.4(ELANE):c.21C>T (p.Leu7=)	rs200666143	0.00003
NM_001972.4(ELANE):c.366+23del
NM_001972.4(ELANE):c.606C>A (p.Ser202=)	rs17216649
NM_001972.4(ELANE):c.606C>T (p.Ser202=)	rs17216649

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