List of variants in gene JAGN1 reported as pathogenic for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	rs587777727	0.00003
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	rs587777730	0.00001
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	rs587777731
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	rs587777729

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