List of variants reported as uncertain significance for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)	rs147873489	0.00058
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)	rs560475969	0.00016
NM_145207.3(AFG2A):c.1978C>T (p.Pro660Ser)	rs750430267	0.00007
NM_145207.3(AFG2A):c.398C>T (p.Pro133Leu)	rs756965142	0.00002
NM_145207.3(AFG2A):c.229T>G (p.Ser77Ala)	rs755797663	0.00001
NM_145207.3(AFG2A):c.2642A>T (p.Tyr881Phe)	rs750171052

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