ClinVar Miner

List of variants reported as pathogenic for IL10-related early-onset inflammatory bowel disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001558.4(IL10RA):c.506T>C (p.Ile169Thr) rs369219156 0.00004
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_000628.5(IL10RB):c.611G>A (p.Trp204Ter) rs1329427406 0.00001
NM_000628.5(IL10RB):c.689C>A (p.Ser230Ter) rs920292604 0.00001
NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr) rs752183065 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_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_001558.4(IL10RA):c.634C>T (p.Arg212Ter) rs1591263883 0.00001
NC_000011.9:g.(?_117856768)_(118972385_?)del
NC_000021.8:g.(?_34638771)_(34668662_?)del
NC_000021.8:g.(?_34648881)_(34655566_?)del
NC_000021.9:g.(?_33276576)_(33276773_?)del
NM_000628.5(IL10RB):c.120G>A (p.Trp40Ter) rs1989014468
NM_000628.5(IL10RB):c.168C>G (p.Tyr56Ter)
NM_000628.5(IL10RB):c.173+2T>G rs2123561272
NM_000628.5(IL10RB):c.300G>A (p.Trp100Ter)
NM_000628.5(IL10RB):c.421G>T (p.Glu141Ter) rs387907326
NM_000628.5(IL10RB):c.476G>A (p.Trp159Ter) rs1373354533
NM_000628.5(IL10RB):c.477G>A (p.Trp159Ter) rs121909601
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter) rs374657927
NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr) rs1561780980
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403
NM_001558.4(IL10RA):c.1_67+1del rs2057986431
NM_001558.4(IL10RA):c.258_279dup (p.Asn94fs)
NM_001558.4(IL10RA):c.301C>T (p.Arg101Trp) rs368287711
NM_001558.4(IL10RA):c.349C>T (p.Arg117Cys)
NM_001558.4(IL10RA):c.3G>A (p.Met1Ile)
NM_001558.4(IL10RA):c.439_452del (p.Arg147fs)
NM_001558.4(IL10RA):c.470A>G (p.Tyr157Cys)
NM_001558.4(IL10RA):c.501T>G (p.Tyr167Ter)
NM_001558.4(IL10RA):c.618dup (p.Pro207fs) rs1187971271
NM_001558.4(IL10RA):c.756C>A (p.Tyr252Ter) rs2134991615
NM_001558.4(IL10RA):c.769C>T (p.Gln257Ter) rs1214626558
NM_001558.4(IL10RA):c.99G>A (p.Trp33Ter)

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