ClinVar Miner

List of variants reported as pathogenic for Microcephaly and chorioretinopathy 3 by Genetic Services Laboratory, University of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)	rs200092283	0.00034
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)	rs794726855	0.00004

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