ClinVar Miner

List of variants reported as pathogenic for autoimmune disease by 3billion

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_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_139276.3(STAT3):c.551-1G>C rs1598423756

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