List of variants reported as likely pathogenic for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome by MGZ Medical Genetics Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser)	rs375343753	0.00001
NM_145207.3(AFG2A):c.554G>A (p.Gly185Glu)	rs753587518	0.00001
NM_145207.3(AFG2A):c.1810C>T (p.Gln604Ter)	rs373156651
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	rs796052243

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