ClinVar Miner

List of variants studied for Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_153577197)_(153579429_?)dup
NC_000023.10:g.(?_153577197)_(153609577_?)dup
NC_000023.10:g.(?_153577207)_(153599623_?)dup
NC_000023.10:g.(?_153577207)_(153650075_?)dup
NC_000023.10:g.(?_153579929)_(153649363_?)dup
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His) rs1557178146
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile) rs782722036

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.