List of variants reported as pathogenic for Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs)	rs2092369866
NM_001352027.3(PHF21A):c.1174A>T (p.Lys392Ter)	rs2135465689
NM_001352027.3(PHF21A):c.1223dup (p.Glu409fs)	rs1591102099
NM_001352027.3(PHF21A):c.1288G>A (p.Gly430Ser)	rs1591092743
NM_001352027.3(PHF21A):c.1724C>A (p.Ser575Ter)	rs2495614521
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)	rs1565138763
NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)	rs761575760
NM_001352027.3(PHF21A):c.265C>T (p.Gln89Ter)
NM_001352027.3(PHF21A):c.286C>T (p.Gln96Ter)
NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)	rs2497897075
NM_001352027.3(PHF21A):c.660_661insAA (p.Pro221fs)	rs1591407315
NM_001352027.3(PHF21A):c.76C>T (p.Gln26Ter)	rs2504489983
NM_001352027.3(PHF21A):c.816_823del (p.Thr273fs)	rs2135936249

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