ClinVar Miner

List of variants in gene PHF21A reported as pathogenic for intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures

Included ClinVar conditions (1):
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Total variants: 12
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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)
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001352027.3(PHF21A):c.1958del (p.Pro653fs)
NM_001352027.3(PHF21A):c.265C>T (p.Gln89Ter)
NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)
NM_001352027.3(PHF21A):c.660_661insAA (p.Pro221fs) rs1591407315
NM_001352027.3(PHF21A):c.76C>T (p.Gln26Ter)
NM_001352027.3(PHF21A):c.816_823del (p.Thr273fs) rs2135936249

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