ClinVar Miner

List of variants in gene combination LOC130009573, RFXAP reported as likely benign for MHC class II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000538.4(RFXAP):c.24G>A (p.Glu8=) rs540467033 0.00213
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_000538.4(RFXAP):c.129A>G (p.Gln43=) rs762143349 0.00011
NM_000538.4(RFXAP):c.27C>T (p.Gly9=) rs1049663849 0.00006
NM_000538.4(RFXAP):c.108G>C (p.Ser36=) rs1383786589 0.00002
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.54G>T (p.Val18=) rs770791539 0.00001
NM_000538.4(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000538.4(RFXAP):c.123C>T (p.Ala41=) rs764409673
NM_000538.4(RFXAP):c.135C>T (p.Thr45=)
NM_000538.4(RFXAP):c.150A>G (p.Gln50=) rs761195790
NM_000538.4(RFXAP):c.36G>T (p.Pro12=)
NM_000538.4(RFXAP):c.84G>A (p.Ala28=)
NM_000538.4(RFXAP):c.9G>C (p.Ala3=)
NM_000538.4(RFXAP):c.9G>T (p.Ala3=) rs771794648

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.