List of variants reported as association for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012387.3(PADI4):c.349T>C (p.Leu117=)	rs1748033	0.63756
NM_007365.3(PADI2):c.1159-39G>A	rs2057094	0.56206
NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	rs11203367	0.55848
NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	rs11203366	0.55047
NM_012387.3(PADI4):c.341-15T>C	rs2240340	0.54446
NM_007365.3(PADI2):c.92+1006C>A	rs1005753	0.54320
NM_007365.3(PADI2):c.729T>G (p.Gly243=)	rs2076615	0.26663
NM_005527.4(HSPA1L):c.1673A>C (p.Glu558Ala)	rs2227955	0.04242
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	rs2066844	0.02936
NM_152649.4(MLKL):c.437G>A (p.Arg146Gln)	rs34515646	0.01607
NM_152649.4(MLKL):c.394T>C (p.Ser132Pro)	rs35589326	0.01191
NM_005527.4(HSPA1L):c.802G>A (p.Ala268Thr)	rs34620296	0.00157
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)	rs104895467	0.00076
NM_005527.4(HSPA1L):c.800C>T (p.Thr267Ile)	rs139868987	0.00019
NM_005527.4(HSPA1L):c.515_517del (p.Leu172del)	rs750447828	0.00011
NM_005527.4(HSPA1L):c.229G>A (p.Gly77Ser)	rs368138379	0.00001
NC_000001.11:g.17157671G>T	rs1557787212
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)	rs2066845
NM_001715.3(BLK):c.843T>G (p.Phe281Leu)	rs2306234
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile)	rs121913459
NM_007365.3(PADI2):c.*258A>T	rs2235926
NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	rs874881
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847

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.