ClinVar Miner

List of variants studied for Multiple congenital anomalies-hypotonia-seizures syndrome 2 by Mendelics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)	rs1602206653
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)	rs1602206514
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)	rs2147723760
NM_002641.4(PIGA):c.955G>A (p.Val319Met)	rs765961204

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