List of variants in gene ELANE reported as pathogenic by GeneDx

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)	rs137854445	0.00003
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg)	rs140880838	0.00001
NM_001972.2(ELANE):c.600_601dupGG	rs1057518191
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe)	rs878855320
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro)	rs878855319
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)	rs878855315
NM_001972.4(ELANE):c.336_359del (p.Asn113_Ile120del)	rs879255272
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	rs137854448
NM_001972.4(ELANE):c.452G>T (p.Cys151Phe)	rs57246956
NM_001972.4(ELANE):c.597+1G>A	rs1555710005
NM_001972.4(ELANE):c.597+1G>C	rs1555710005
NM_001972.4(ELANE):c.597+5G>A	rs879253882
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	rs137854451

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