ClinVar Miner

List of variants in gene MAN1B1 reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs) rs1382373816 0.00003
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter) rs1207589187 0.00001
NC_000009.11:g.(?_139981452)_(139983477_?)del
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro) rs1158130828
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs) rs794729645
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs) rs747262065
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter) rs1564311909
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter) rs1831100789
NM_016219.5(MAN1B1):c.1445+2_1445+5del rs1831100970
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter) rs2130986124
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.621-2A>G rs937318545
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs) rs1564281411
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)

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.