List of variants reported as pathogenic for neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001277.3(CHKA):c.1021T>C (p.Phe341Leu)	rs2134518071
NM_001277.3(CHKA):c.14dup (p.Cys6fs)	rs2153034844
NM_001277.3(CHKA):c.2T>C (p.Met1Thr)	rs2153034846
NM_001277.3(CHKA):c.421C>T (p.Arg141Trp)	rs765529707
NM_001277.3(CHKA):c.580C>T (p.Pro194Ser)	rs763056271

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