ClinVar Miner

List of variants reported as pathogenic for inflammatory bowel disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) rs104895479 0.00003
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_000002.11:g.(?_9645275)_(9650280_?)del
NC_000002.11:g.(?_9663358)_(9666393_?)del
NC_000002.12:g.9523337_9523340del
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.477G>A (p.Trp159Ter) rs121909601
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) rs104895477
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) rs104895473
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) rs1964520477
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) rs104895475
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) rs104895461
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.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_003183.6(ADAM17):c.1015dup (p.Thr339fs)
NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer)
NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs)
NM_003183.6(ADAM17):c.1467_1468del (p.Cys489_Asp490delinsTer) rs2124999155
NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)
NM_003183.6(ADAM17):c.1645del (p.Thr549fs) rs1572897958
NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) rs1662434135
NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter)
NM_003183.6(ADAM17):c.1975_1993+4del rs1662343008
NM_003183.6(ADAM17):c.619+1del
NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs) rs1000050918

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