ClinVar Miner

List of variants reported as benign for autoimmune disease by Genome-Nilou Lab

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.452-28T>C rs2639653 0.99043
NM_006254.4(PRKCD):c.1857T>C (p.Pro619=) rs900495 0.94337
NM_006254.4(PRKCD):c.1782C>G (p.Thr594=) rs1075865 0.93819
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_006254.4(PRKCD):c.1441C>T (p.Leu481=) rs2306574 0.75510
NM_006254.4(PRKCD):c.1743+29T>G rs7630600 0.74353
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_139276.3(STAT3):c.1233+43C>G rs2293152 0.66160
NM_006254.4(PRKCD):c.115+21C>G rs2306571 0.65337
NM_000383.4(AIRE):c.995+109A>G rs1078480 0.49492
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779 0.49415
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521 0.39834
NM_000383.4(AIRE):c.1096-288G>A rs933150 0.30258
NM_006254.4(PRKCD):c.1119G>A (p.Glu373=) rs2230494 0.29106
NM_000383.4(AIRE):c.681C>T (p.Gly227=) rs1055311 0.21613
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081 0.18544
NM_000383.4(AIRE):c.1095+6G>A rs1800525 0.10544
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_139276.3(STAT3):c.1601-10dup rs3830585

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.