List of variants reported as pathogenic for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val)	rs796051892	0.00004
NM_145207.3(AFG2A):c.1574_1578del (p.Asn525fs)	rs796051891	0.00003
NM_145207.3(AFG2A):c.1343C>T (p.Ser448Leu)	rs766034355	0.00002
NM_145207.3(AFG2A):c.556C>T (p.Arg186Ter)	rs796052095	0.00001
NM_145207.3(AFG2A):c.2131_2134del (p.Glu711fs)	rs767185543
NM_145207.3(AFG2A):c.298G>A (p.Ala100Thr)	rs796051895
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243

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