ClinVar Miner

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

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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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