ClinVar Miner

List of variants reported as pathogenic for Isolated microphthalmia 4

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu)	rs121909352	0.00198
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)	rs121909355
NM_001001557.4(GDF6):c.980C>A (p.Pro327His)	rs121909356

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