ClinVar Miner

List of variants in gene combination ADAM17, IAH1 reported as uncertain significance for neonatal inflammatory skin and bowel disease

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.1480A>G (p.Met494Val) rs1038962906 0.00034
NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn) rs758594009 0.00019
NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly) rs144657795 0.00019
NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile) rs371598292 0.00008
NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr) rs375942302 0.00008
NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) rs147275585 0.00007
NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val) rs143293318 0.00006
NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser) rs554069834 0.00006
NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys) rs549183501 0.00006
NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) rs747645870 0.00006
NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) rs140933944 0.00005
NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys) rs764909573 0.00004
NM_003183.6(ADAM17):c.1345-3A>G rs377134738 0.00004
NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn) rs200446953 0.00004
NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly) rs750249923 0.00004
NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met) rs780454096 0.00003
NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu) rs765883520 0.00003
NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr) rs761836949 0.00003
NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn) rs749860291 0.00003
NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys) rs750951308 0.00002
NM_003183.6(ADAM17):c.1648+4C>T rs368540920 0.00002
NM_003183.6(ADAM17):c.1723G>C (p.Asp575His) rs767693528 0.00002
NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser) rs756429621 0.00002
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu) rs372189309 0.00002
NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg) rs764293730 0.00002
NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val) rs776562188 0.00001
NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn) rs777722013 0.00001
NM_003183.6(ADAM17):c.1344+6T>C rs752978791 0.00001
NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu) rs760407268 0.00001
NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly) rs201743292 0.00001
NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn) rs372967979 0.00001
NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val) rs749866093 0.00001
NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu) rs1394373815 0.00001
NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu) rs759653644 0.00001
NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) rs780557617 0.00001
NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val) rs988994141 0.00001
NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln) rs777431052 0.00001
NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys) rs1662107386 0.00001
NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) rs1257938701 0.00001
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser) rs889062988 0.00001
NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val) rs181463078 0.00001
NM_003183.6(ADAM17):c.2213G>A (p.Arg738His) rs538865826 0.00001
NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) rs751381392 0.00001
NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) rs753859098 0.00001
NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr) rs1228003788 0.00001
NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) rs764050476 0.00001
NM_003183.6(ADAM17):c.2438G>A (p.Arg813His) rs760757602 0.00001
NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys) rs752730764 0.00001
NM_003183.6(ADAM17):c.2452G>C (p.Asp818His) rs142315365 0.00001
NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val) rs2125007795
NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu) rs1663648695
NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)
NM_003183.6(ADAM17):c.1331A>G (p.His444Arg) rs1558506921
NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)
NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)
NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His) rs1340914501
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) rs774191569
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)
NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)
NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)
NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe) rs2124990793
NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr) rs1663042903
NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr) rs1662677874
NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu) rs1662676771
NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)
NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr) rs1184105835
NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)
NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)
NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala) rs1572880990
NM_003183.6(ADAM17):c.1829G>A (p.Arg610His) rs140536552
NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)
NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)
NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)
NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu) rs2124966841
NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly) rs1048485082
NM_003183.6(ADAM17):c.1914+3_1914+6del rs769369491
NM_003183.6(ADAM17):c.1914+5G>A rs2124966714
NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile) rs1553356735
NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)
NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn) rs2124963317
NM_003183.6(ADAM17):c.1993+4G>T rs376877494
NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)
NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val) rs1298570790
NM_003183.6(ADAM17):c.2082+4A>G
NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)
NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)
NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu) rs144721235
NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs) rs1662038678
NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) rs889062988
NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys) rs370064783
NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)
NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)
NM_003183.6(ADAM17):c.2237dup (p.Ser747fs) rs1662030392
NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser) rs761025971
NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr) rs374624230
NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro) rs772616091
NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)
NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe) rs1558489720
NM_003183.6(ADAM17):c.2287C>T (p.Gln763Ter)
NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg) rs2124948504
NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) rs1662022623
NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)
NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)
NM_003183.6(ADAM17):c.2390del (p.Asp797fs) rs2124947949
NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe) rs780850654
NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)
NM_003183.6(ADAM17):c.2414dup (p.Ala806fs) rs2124947833
NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro) rs761391373
NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser) rs761391373
NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu) rs2124947759
NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser) rs2124947605
NM_003183.6(ADAM17):c.2445dup (p.Arg816fs) rs2124947599
NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup) rs1662005144
NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs) rs1222616180

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