List of variants in gene combination ACSM3, THUMPD1 reported as uncertain significance for Neurodevelopmental disorder with speech delay and variable ocular anomalies

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	rs778649204	0.00002
NM_017736.5(THUMPD1):c.491C>G (p.Pro164Arg)
NM_017736.5(THUMPD1):c.848A>T (p.Asn283Ile)	rs1206845592

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