ClinVar Miner

List of variants in gene combination LOC126807323, TRIO reported as uncertain significance for Intellectual developmental disorder, autosomal dominant 63, with macrocephaly

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln)	rs768858988	0.00005
NM_007118.4(TRIO):c.8027A>G (p.Asn2676Ser)	rs150431198	0.00003

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