ClinVar Miner

List of variants studied for Microcephaly and chorioretinopathy 3 by OMIM

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Total variants: 4
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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
NG_042168.2:g.(35752_37583)_(39659_?)del
NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs) rs794726856

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