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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	rs387906726
NM_002641.4(PIGA):c.230G>T (p.Arg77Leu)	rs587777398
NM_002641.4(PIGA):c.278C>T (p.Pro93Leu)	rs587777400
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)	rs587777396
NM_002641.4(PIGA):c.616A>T (p.Ile206Phe)	rs201119959
NM_002641.4(PIGA):c.76dup (p.Tyr26fs)	rs587777397

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