ClinVar Miner

List of variants in gene ADAM17 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu) rs144458353 0.00020
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) rs768569416 0.00011
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala) rs748048199 0.00009
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) rs139401611 0.00007
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr) rs146033784 0.00006
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) rs775793715 0.00006
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) rs201481056 0.00005
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu) rs765820179 0.00004
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) rs142946965 0.00004
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr) rs777632615 0.00003
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser) rs758650568 0.00003
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val) rs747536329 0.00002
NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser) rs148983888 0.00001
NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr) rs771131237 0.00001
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp) rs781232281 0.00001
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser) rs1188689290 0.00001
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe) rs781773909 0.00001
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu) rs752745494 0.00001
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) rs1361814499 0.00001
NM_003183.6(ADAM17):c.194A>G (p.His65Arg) rs774425802 0.00001
NM_003183.6(ADAM17):c.231-3C>T rs1394369977 0.00001
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn) rs752645542 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) rs770400357 0.00001
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr) rs777284700 0.00001
NM_003183.6(ADAM17):c.530G>A (p.Arg177His) rs763442293 0.00001
NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) rs373192089 0.00001
NM_003183.6(ADAM17):c.773T>C (p.Val258Ala) rs994263495 0.00001
NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) rs1664294967 0.00001
NM_003183.6(ADAM17):c.94C>G (p.Leu32Val) rs779147649 0.00001
NM_003183.6(ADAM17):c.975A>G (p.Ile325Met) rs1222914560 0.00001
NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly) rs779424893 0.00001
NC_000002.12:g.(?_9490157)_(9555625_?)dup
NC_000002.12:g.(?_9509959)_(9510151_?)dup
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) rs1226429049
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)
NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val) rs1664137750
NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=)
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val)
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr) rs1292921269
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val)
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu) rs986450748
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr) rs2125040739
NM_003183.6(ADAM17):c.230+4A>G rs755484483
NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr) rs2125040735
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro) rs2125035520
NM_003183.6(ADAM17):c.276A>C (p.Gln92His)
NM_003183.6(ADAM17):c.289G>A (p.Val97Met) rs377513734
NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) rs756840167
NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu) rs1664974310
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu) rs1186689463
NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr) rs772557660
NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu) rs1340974006
NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys) rs935773047
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu) rs578189296
NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) rs1664940070
NM_003183.6(ADAM17):c.43G>A (p.Val15Met)
NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr) rs1664939081
NM_003183.6(ADAM17):c.451-5T>G
NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly) rs2125027565
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser) rs1664592938
NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu) rs1664592673
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile)
NM_003183.6(ADAM17):c.512A>T (p.Asp171Val)
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) rs1664590884
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile)
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) rs1204442125
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys) rs2125027503
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu)
NM_003183.6(ADAM17):c.571A>C (p.Asn191His) rs2125027486
NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly) rs2125027483
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn)
NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg) rs749144062
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser)
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu)
NM_003183.6(ADAM17):c.671C>T (p.Thr224Met) rs548923032
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) rs1553364641
NM_003183.6(ADAM17):c.738_740del (p.Thr248del) rs777536319
NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp) rs2125049728
NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr) rs2125023419
NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu) rs2125023411
NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys) rs1664384427
NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro) rs1664383899
NM_003183.6(ADAM17):c.844-6G>A
NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)
NM_003183.6(ADAM17):c.948G>A (p.Met316Ile) rs367951580
NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe) rs779147649

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