List of variants reported as pathogenic for Multiple congenital anomalies-hypotonia-seizures syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_14861689)_(15870650_?)del
NM_002641.4(PIGA):c.1028del (p.Asn343fs)	rs2519324834
NM_002641.4(PIGA):c.1234C>T (p.Arg412Ter)	rs387906726
NM_002641.4(PIGA):c.1354G>A (p.Asp452Asn)	rs1921817809
NM_002641.4(PIGA):c.241C>T (p.Arg81Cys)	rs1569180071
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)	rs2519331621
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)	rs1555945553
NM_002641.4(PIGA):c.823C>T (p.Arg275Trp)	rs1057524256

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