ClinVar Miner

List of variants studied for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome by Mendelics

Included ClinVar conditions (1):
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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.1213G>A (p.Ala405Thr) rs749406391 0.00001
NM_001673.5(ASNS):c.883G>A (p.Asp295Asn) rs781581679

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