ClinVar Miner

List of variants reported as uncertain significance for Pseudo-TORCH syndrome 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001205254.2(OCLN):c.452C>T (p.Ala151Val)	rs28562785	0.00264
NM_001205254.2(OCLN):c.384C>T (p.Tyr128=)	rs150730577	0.00010
NM_001205254.2(OCLN):c.4T>C (p.Ser2Pro)	rs113706384

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