ClinVar Miner

List of variants studied for Hennekam syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001291303.3(FAT4):c.7199+29T>G rs7656135 0.99289
NM_001291303.3(FAT4):c.7707G>C (p.Val2569=) rs988863 0.99289
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) rs12650153 0.99272
NM_001291303.3(FAT4):c.6843+29G>T rs10010000 0.99271
NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=) rs958415 0.99029
NM_014243.3(ADAMTS3):c.2179+21G>A rs10024487 0.98931
NM_133459.4(CCBE1):c.401-29T>C rs4940876 0.95824
NM_001291303.3(FAT4):c.2944T>C (p.Leu982=) rs2940779 0.74871
NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=) rs1014866 0.74715
NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=) rs2710555 0.73896
NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) rs788908 0.66379
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val) rs1039808 0.46652
NM_133459.4(CCBE1):c.266-30T>C rs632899 0.44900
NM_133459.4(CCBE1):c.266-104C>T rs650033 0.43621
NM_133459.4(CCBE1):c.266-63G>T rs663452 0.42927
NM_001291303.3(FAT4):c.12214-5C>T rs17009761 0.38645
NM_133459.4(CCBE1):c.776-164G>A rs11152148 0.38292
NM_001291303.3(FAT4):c.12822+28T>G rs11098815 0.34175
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) rs1567047 0.21721
NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=) rs62312781 0.19007
NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=) rs17009618 0.14565
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) rs6847454
NM_014243.3(ADAMTS3):c.69+31del rs5859330
NM_133459.4(CCBE1):c.775+82A>G rs3809990

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.