ClinVar Miner

List of variants reported as likely benign for autism spectrum disorder by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_012309.4(SHANK2):c.*1597T>G rs2154625
NM_012309.4(SHANK2):c.*2583T>C rs55678639
NM_012309.4(SHANK2):c.*4102C>G rs61885874
NM_012309.4(SHANK2):c.*4377A>T rs513996
NM_012309.4(SHANK2):c.-36A>G rs3020047
NM_012309.4(SHANK2):c.336C>T (p.Asp112=) rs76014490
NM_012309.4(SHANK2):c.385G>A (p.Val129Met) rs73521173
NM_012309.4(SHANK2):c.483+13C>T rs117706585
NM_012309.4(SHANK2):c.483+14G>A rs75938961
NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys) rs7926203
NM_022807.4(SNRPN):c.-39G>A rs75184959
NM_022807.4(SNRPN):c.-569C>T rs80135925
NM_022807.4(SNRPN):c.-579+5G>A rs56684653
NM_022807.4(SNRPN):c.-672T>C rs7170796
NM_022807.4(SNRPN):c.-89T>C rs705

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.