List of variants in gene ELANE reported as likely pathogenic for autosomal dominant severe congenital neutropenia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro)	rs2035616857
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr)	rs2145144144
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)	rs137854447
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)	rs878855315
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
NM_001972.4(ELANE):c.367-1G>A
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)	rs2145148405
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)	rs137854448
NM_001972.4(ELANE):c.570G>A (p.Val190=)
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
NM_001972.4(ELANE):c.602del (p.Asp201fs)	rs2035673569
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly)	rs2145149526
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu)	rs1555710089
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter)	rs2035675760

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