ClinVar Miner

List of variants studied for autoimmune disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_001370466.1(NOD2):c.2718-1G>T rs576834532
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) rs2081712040
NM_139276.3(STAT3):c.1333G>A (p.Val445Met)
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941

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