ClinVar Miner

List of variants reported as benign for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.629T>A (p.Val210Glu) rs1049674 0.81682
NM_001673.5(ASNS):c.1209C>G (p.Leu403=) rs1049677 0.04876
NM_001673.5(ASNS):c.18G>A (p.Ala6=) rs76996735 0.00904

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