ClinVar Miner

List of variants reported for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)	rs200426926	0.00020
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr)	rs1555400372

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