ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001139.3(ALOX12B):c.1790C>A (p.Ala597Glu) rs752509098 0.00005
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000359.3(TGM1):c.377G>A (p.Arg126His) rs200491579 0.00004
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 0.00004
NM_000359.3(TGM1):c.876+2T>C rs151054393 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys) rs750066836 0.00003
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) rs121918727 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys) rs140526640 0.00002
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser) rs904122716 0.00001
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089 0.00001
NM_000359.3(TGM1):c.1645+1G>T rs774242987 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.184G>T (p.Gly62Ter) rs886041950 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.379C>T (p.Arg127Ter) rs886041250 0.00001
NM_000359.3(TGM1):c.401A>G (p.Tyr134Cys) rs147916609 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.704T>A (p.Leu235Ter) rs1199770893 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met) rs371307766 0.00001
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu) rs766215523 0.00001
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp) rs1311967606 0.00001
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) rs764355087 0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783 0.00001
NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) rs745942843 0.00001
NM_173483.4(CYP4F22):c.1559T>C (p.Leu520Pro) rs1297078466 0.00001
NM_000359.3(TGM1):c.-2-1G>A rs776068111
NM_000359.3(TGM1):c.-2-1G>C
NM_000359.3(TGM1):c.1038C>A (p.Tyr346Ter)
NM_000359.3(TGM1):c.1042_1043insTC (p.Arg348fs) rs1555306172
NM_000359.3(TGM1):c.1090_1091del (p.Ser364fs)
NM_000359.3(TGM1):c.1129del (p.Cys377fs)
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1159+1G>A rs1220151696
NM_000359.3(TGM1):c.1159+1G>T rs1220151696
NM_000359.3(TGM1):c.1160-2_1160-1del rs1555306117
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1175del (p.Gly392fs)
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1194_1209dup (p.Ala404fs)
NM_000359.3(TGM1):c.1281_1282del (p.Asn428fs)
NM_000359.3(TGM1):c.1298+2T>C rs1555306102
NM_000359.3(TGM1):c.1313G>A (p.Trp438Ter) rs1555306089
NM_000359.3(TGM1):c.1329_1330del (p.Met443fs)
NM_000359.3(TGM1):c.132G>A (p.Trp44Ter) rs886039654
NM_000359.3(TGM1):c.1363T>C (p.Trp455Arg) rs863223405
NM_000359.3(TGM1):c.1366C>T (p.Gln456Ter)
NM_000359.3(TGM1):c.1401dup (p.Gly468fs)
NM_000359.3(TGM1):c.1429_1431delinsCT (p.Val477fs)
NM_000359.3(TGM1):c.1472C>T (p.Thr491Met)
NM_000359.3(TGM1):c.1489delinsAC (p.Glu497fs)
NM_000359.3(TGM1):c.1515G>A (p.Trp505Ter)
NM_000359.3(TGM1):c.1581_1591del (p.Val528fs)
NM_000359.3(TGM1):c.159C>A (p.Cys53Ter) rs201432046
NM_000359.3(TGM1):c.1625_1626insTC (p.Leu543fs)
NM_000359.3(TGM1):c.1642G>T (p.Glu548Ter)
NM_000359.3(TGM1):c.1649C>G (p.Ser550Ter) rs1555305836
NM_000359.3(TGM1):c.1670del (p.Val557fs)
NM_000359.3(TGM1):c.1712_1785del (p.Ala571fs)
NM_000359.3(TGM1):c.1714_1715insTCAGATCCTGCCCCATC (p.Asn572fs)
NM_000359.3(TGM1):c.1755_1762dup (p.Ala588fs)
NM_000359.3(TGM1):c.1849_1850del (p.Val618fs) rs1555305783
NM_000359.3(TGM1):c.1899del (p.Lys634fs)
NM_000359.3(TGM1):c.1928-1G>C
NM_000359.3(TGM1):c.1984C>T (p.Gln662Ter) rs1555305725
NM_000359.3(TGM1):c.1985del (p.Gln662fs)
NM_000359.3(TGM1):c.2047C>T (p.Gln683Ter) rs2040730164
NM_000359.3(TGM1):c.2226-2A>G rs752349623
NM_000359.3(TGM1):c.2247_2248del (p.Val750fs)
NM_000359.3(TGM1):c.2260del (p.Gln754fs) rs2040682065
NM_000359.3(TGM1):c.254C>A (p.Ser85Ter)
NM_000359.3(TGM1):c.320-1G>T rs1156392436
NM_000359.3(TGM1):c.335_336del (p.Val112fs)
NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)
NM_000359.3(TGM1):c.398del (p.Glu133fs)
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.425_426delinsAA (p.Arg142Gln)
NM_000359.3(TGM1):c.488del (p.Ile163fs)
NM_000359.3(TGM1):c.496G>T (p.Glu166Ter)
NM_000359.3(TGM1):c.527_528del (p.Gly176fs)
NM_000359.3(TGM1):c.586C>T (p.Gln196Ter) rs1566380103
NM_000359.3(TGM1):c.60_63dup (p.Thr22fs)
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000359.3(TGM1):c.645del (p.Ile216fs)
NM_000359.3(TGM1):c.674G>C (p.Arg225Pro)
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.757+1G>C
NM_000359.3(TGM1):c.771C>A (p.Tyr257Ter)
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro) rs764040146
NM_000359.3(TGM1):c.844C>T (p.Gln282Ter) rs2139025289
NM_000359.3(TGM1):c.856C>T (p.Arg286Trp) rs773777400
NM_000359.3(TGM1):c.862T>C (p.Trp288Arg) rs1247223599
NM_000359.3(TGM1):c.874C>T (p.Gln292Ter)
NM_000359.3(TGM1):c.877-1G>A
NM_000359.3(TGM1):c.910A>T (p.Ile304Phe) rs753798494
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.925_945delinsCGGG (p.Gly309fs)
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg) rs2139024935
NM_000359.3(TGM1):c.953del (p.Pro318fs)
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) rs1028050037
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001139.3(ALOX12B):c.805C>T (p.Leu269Phe) rs532842455
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro) rs1182312612
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu) rs533584507
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) rs922934422
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp) rs1373230987
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro) rs746575171
NM_001374623.1(PNPLA1):c.820del (p.Arg274fs) rs1170446813
NM_001378183.1(PIEZO2):c.64+1G>A rs2040867555
NM_001378789.1(CERS3):c.46del (p.Leu16fs) rs1596772428
NM_002640.4(SERPINB8):c.270del (p.Asn90fs)
NM_021628.3(ALOXE3):c.1208A>G (p.His403Arg) rs1296095311
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter) rs754701941
NM_021628.3(ALOXE3):c.1685-2A>G
NM_021628.3(ALOXE3):c.352+1G>T
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser) rs1953368935
NM_021978.4(ST14):c.241+1G>A rs2136211819
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp) rs201542666
NM_173076.3(ABCA12):c.1657+1G>T rs758568142
NM_173076.3(ABCA12):c.1918dup (p.Leu640fs) rs1574984736
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) rs1559134341
NM_173076.3(ABCA12):c.4151A>G (p.Lys1384Arg)
NM_173076.3(ABCA12):c.4381del (p.Arg1461fs)
NM_173076.3(ABCA12):c.5001_5010del (p.Ser1668fs)
NM_173076.3(ABCA12):c.5878C>T (p.Arg1960Ter) rs769753487
NM_173076.3(ABCA12):c.5939+4A>G rs1131692156
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter) rs1187032187
NM_173076.3(ABCA12):c.6463G>T (p.Gly2155Cys)
NM_173076.3(ABCA12):c.7240-1G>T
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) rs761068277
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_173483.4(CYP4F22):c.1177_1179del (p.Lys393del) rs1971554136
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) rs1449980834
NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp) rs1303127476

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