C2750433[trait identifier] AND "3billion"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 912721	NM_001379081.2(FREM1):c.4069G>A (p.Gly1357Arg)	FREM1 (G1357R)	Single nucleotide variant (missense variant +1 more)	Oculotrichoanal syndrome +3 more	GConflicting classifications of pathogenicity
Select item 914852	NM_001379081.2(FREM1):c.-12G>C	FREM1	Single nucleotide variant (5 prime UTR variant +1 more)	Oculotrichoanal syndrome +1 more	GConflicting classifications of pathogenicity