ClinVar Miner

List of variants reported as likely pathogenic for Neurodevelopmental disorders

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024072.4(DDX54):c.856G>A (p.Val286Met) rs148961522 0.00241
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln) rs777276705 0.00002
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) rs1582940678 0.00001
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg) rs774035439 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met) rs1277857720 0.00001
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) rs1582953009
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) rs1582931908
NM_003587.5(DHX16):c.2091G>T (p.Gln697His) rs1582931640
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) rs549149043
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_024072.4(DDX54):c.647A>G (p.Asn216Ser) rs764707570
NM_024072.4(DDX54):c.892C>T (p.Leu298Phe) rs1593005589
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)

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.