ClinVar Miner

List of variants studied for autoimmune disease by New York Genome Center

Included ClinVar conditions (89):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) rs202022420 0.00003
NM_001370466.1(NOD2):c.2298G>A (p.Val766=) rs534738790 0.00002
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00001
NM_001228.5(CASP8):c.-26-6994T>C rs905759639 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_001370466.1(NOD2):c.1579del (p.Ala527fs) rs2150811580
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683

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