List of variants in gene JAGN1 reported as benign 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_032492.4(JAGN1):c.96T>C (p.Thr32=)	rs279553	0.69356
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)	rs35365817	0.02315
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr)	rs61746084	0.01094
NM_032492.4(JAGN1):c.498C>T (p.Ser166=)	rs61738795	0.00399
NM_032492.4(JAGN1):c.21G>C (p.Pro7=)	rs138937423	0.00299
NM_032492.4(JAGN1):c.1A>G (p.Met1Val)	rs143438463	0.00267
NM_032492.4(JAGN1):c.90-20C>T	rs187981807	0.00144
NM_032492.4(JAGN1):c.315C>A (p.Ile105=)	rs185449117	0.00064
NM_032492.4(JAGN1):c.90-19C>T	rs201733831	0.00016
NM_032492.4(JAGN1):c.336C>T (p.Ile112=)	rs368122140	0.00003
NM_032492.4(JAGN1):c.*9T>C	rs11554811

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