ClinVar Miner

List of variants in gene ADNP reported as benign for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.*50A>C rs761240 0.94627
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03400
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00359
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110

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.