List of variants in gene combination ASNS, CZ1P-ASNS reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001673.5(ASNS):c.829G>A (p.Ala277Thr)	rs2070159	0.01014
NM_001673.5(ASNS):c.1465G>A (p.Val489Ile)	rs772079299	0.00010
NM_001673.5(ASNS):c.728T>C (p.Val243Ala)	rs148111963	0.00002
NM_001673.5(ASNS):c.1192dup (p.Tyr398fs)	rs773348232	0.00001
NM_001673.5(ASNS):c.478del (p.Glu160fs)	rs797045307
NM_001673.5(ASNS):c.775+18_775+19dup	rs36021744

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