ClinVar Miner

List of variants studied for inflammatory bowel disease by OMIM

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003060.4(SLC22A5):c.-207= rs2631367 0.41743
NM_001145805.2(IRGM):c.313C>T (p.Leu105=) rs10065172 0.20755
NM_001370466.1(NOD2):c.2717+158C>T rs5743289 0.10180
NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) rs11209026 0.04676
NM_001135146.2(SLC39A8):c.1171G>A (p.Ala391Thr) rs13107325 0.04560
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_001558.4(IL10RA):c.784C>T (p.Arg262Cys) rs149491038 0.00003
NM_021803.4(IL21):c.146T>C (p.Leu49Pro) rs587777338 0.00003
NM_001184900.3(CARD8):c.130G>A (p.Val44Ile) rs879255364 0.00001
NM_001558.4(IL10RA):c.251C>T (p.Thr84Ile) rs137853580 0.00001
NM_001558.4(IL10RA):c.421G>A (p.Gly141Arg) rs137853579 0.00001
NM_014439.4(IL37):c.530T>C (p.Ile177Thr) rs750833867 0.00001
EGFR, ARG98TER
EGFR, ILE365ASN
NM_000628.5(IL10RB):c.421G>T (p.Glu141Ter) rs387907326
NM_000628.5(IL10RB):c.477G>A (p.Trp159Ter) rs121909601
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe) rs41313912
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) rs368287711
NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) rs387906866
NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp) rs606231253
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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