ClinVar Miner

List of variants reported as pathogenic for congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963 0.00002
NM_001673.5(ASNS):c.1648C>T (p.Arg550Cys) rs398122974 0.00001
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val) rs398122973
NM_001673.5(ASNS):c.1097G>A (p.Gly366Glu) rs1584459666
NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser) rs758183057
NM_001673.5(ASNS):c.17C>A (p.Ala6Glu) rs398122975

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