List of variants reported as pathogenic for IL10-related early-onset inflammatory bowel disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
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_000628.5(IL10RB):c.611G>A (p.Trp204Ter)	rs1329427406	0.00001
NM_000628.5(IL10RB):c.689C>A (p.Ser230Ter)	rs920292604	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.477G>A (p.Trp159Ter)	rs121909601
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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