ClinVar Miner

List of variants reported for Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln) rs567175477 0.00002
NM_145207.3(AFG2A):c.2440C>T (p.Pro814Ser) rs1246300838 0.00001

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