List of variants in gene AIFM1, RAB33A studied for bone development disease

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.273T>C (p.Asp91=)	rs1139851	0.50355
NM_004208.4(AIFM1):c.1833T>C (p.His611=)	rs73556209	0.00551
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=)	rs61730898	0.00188
NM_004208.4(AIFM1):c.606-15C>T	rs191297808	0.00109
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	rs761953453	0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)	rs1375125488	0.00001
NM_004208.4(AIFM1):c.1770+12T>C	rs781186692	0.00001
NM_004208.4(AIFM1):c.1696T>A (p.Phe566Ile)
NM_004208.4(AIFM1):c.597A>G (p.Lys199=)	rs143670174
NM_004208.4(AIFM1):c.649C>G (p.Leu217Val)
NM_004208.4(AIFM1):c.697-44T>G	rs1603225182
NM_004208.4(AIFM1):c.705G>C (p.Gln235His)	rs377527583
NM_004208.4(AIFM1):c.710A>G (p.Asp237Gly)	rs1202786652
NM_004208.4(AIFM1):c.720C>T (p.Asp240=)	rs1569418673
NM_004208.4(AIFM1):c.742G>A (p.Gly248Ser)
NM_004208.4(AIFM1):c.760G>A (p.Glu254Lys)	rs2124656997

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.