ClinVar Miner

List of variants reported as likely pathogenic for Multiple congenital anomalies-hypotonia-seizures syndrome 2

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Total variants: 4
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NM_002641.3(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.3(PIGA):c.193C>T (p.His65Tyr)
NM_002641.3(PIGA):c.395C>G (p.Ser132Cys) rs1060499625
NM_002641.3(PIGA):c.56G>A (p.Arg19Gln) rs1555945553

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