ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by Baylor Genetics

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) rs113994137 0.00001
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_014009.4(FOXP3):c.1110G>A (p.Met370Ile)
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662

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