List of variants studied for alternating hemiplegia by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)	rs1555972957
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)	rs1555972641
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)	rs1555972640
NM_000475.5(NR0B1):c.277del (p.Ala93fs)	rs1555973189
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)	rs1555973172
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)	rs1131691564
NM_000475.5(NR0B1):c.754del (p.Gln252fs)	rs1555973063
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)	rs1555973045
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)	rs104894907
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)	rs1324519932
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)	rs1555972994

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.