ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) rs121908979 0.00004
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter) rs386834061 0.00002
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) rs786204714 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
NM_000051.4(ATM):c.689del (p.Asn230fs) rs1057518965
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_002296.4(LBR):c.1639A>G (p.Asn547Asp) rs587777171
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter) rs1694125419
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387
NM_033629.6(TREX1):c.856_865dup (p.Ala289fs) rs2040385695
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs) rs1057518939

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.