List of variants in gene HAAO studied for Vertebral, cardiac, renal, and limb defects syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012205.3(HAAO):c.81-10C>T	rs3816184	0.80170
NM_012205.3(HAAO):c.109A>G (p.Ile37Val)	rs3816183	0.79336
NM_012205.3(HAAO):c.440+19C>T	rs2241850	0.35102
NM_012205.3(HAAO):c.630+34C>T	rs13413507	0.09999
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln)	rs1363954556	0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter)	rs527656756	0.00001
NM_012205.3(HAAO):c.124A>T (p.Thr42Ser)	rs3816182
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys)	rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln)	rs746702852
NM_012205.3(HAAO):c.243+1G>A	rs1232096291
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp)	rs1672152382
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter)	rs1135401743

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.