ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis by OMIM

Included ClinVar conditions (23):
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ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_005213.4(CSTA):c.172C>T (p.Arg58Ter) rs149474339 0.00005
NM_000359.3(TGM1):c.425G>A (p.Arg142His) rs121918718 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.1642C>T (p.Arg548Trp) rs397514532 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr) rs770729222 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_005213.4(CSTA):c.64A>T (p.Lys22Ter) rs747711488 0.00002
NM_173076.3(ABCA12):c.4951G>A (p.Gly1651Ser) rs28940568 0.00002
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) rs398122904 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.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.943C>T (p.Arg315Cys) rs397514525 0.00001
NM_001139.3(ALOX12B):c.1180G>A (p.Glu394Lys) rs397514529 0.00001
NM_001139.3(ALOX12B):c.1207C>T (p.His403Tyr) rs397514531 0.00001
NM_001139.3(ALOX12B):c.1294C>T (p.Arg432Ter) rs397514527 0.00001
NM_001139.3(ALOX12B):c.199A>T (p.Ile67Phe) rs397514533 0.00001
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp) rs397514526 0.00001
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr) rs374612640 0.00001
NM_021628.3(ALOXE3):c.434G>A (p.Arg145His) rs745480657 0.00001
NM_148897.3(SDR9C7):c.214C>T (p.Arg72Trp) rs530109812 0.00001
NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His) rs28940270 0.00001
NM_173076.3(ABCA12):c.6610C>T (p.Arg2204Ter) rs137853289 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_177973.2(SULT2B1):c.821G>A (p.Arg274Gln) rs762765702 0.00001
A114N
NG_007987.1:g.(26429_33751)_(48033_?)del
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
NM_000359.3(TGM1):c.1166G>A (p.Arg389His) rs121918723
NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp) rs121918726
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.1297del (p.Trp433fs) rs2139023508
NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs) rs398122900
NM_000359.3(TGM1):c.1331dup (p.Arg445fs) rs398122903
NM_000359.3(TGM1):c.1923_1927+2del rs398122902
NM_000359.3(TGM1):c.2114del (p.Gln705fs) rs2139018490
NM_000359.3(TGM1):c.305A>T (p.Asp102Val) rs398122901
NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) rs121918718
NM_000359.3(TGM1):c.479C>G (p.Ser160Cys) rs121918728
NM_000359.3(TGM1):c.614T>A (p.Leu205Gln) rs878853259
NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) rs397514523
NM_000359.3(TGM1):c.866A>C (p.Asn289Thr) rs121918730
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) rs56829062
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) rs137852630
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) rs137852629
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) rs137852628
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) rs57510142
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) rs137852631
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) rs137852631
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) rs137852632
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001102469.2(LIPN):c.399_400del (p.Glu133fs) rs759880018
NM_001139.3(ALOX12B):c.1277T>C (p.Leu426Pro) rs137853023
NM_001139.3(ALOX12B):c.1389del (p.Phe463fs) rs387906349
NM_001139.3(ALOX12B):c.1734C>A (p.His578Gln) rs137853024
NM_001139.3(ALOX12B):c.2036G>T (p.Arg679Leu) rs397514528
NM_001139.3(ALOX12B):c.353-1G>A rs1598181810
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) rs1561853847
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) rs1561864453
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001378789.1(CERS3):c.43T>C (p.Trp15Arg) rs762679102
NM_001378789.1(CERS3):c.609+1G>T rs587776996
NM_002640.4(SERPINB8):c.947del (p.Lys316fs) rs762923677
NM_005213.4(CSTA):c.256C>T (p.Gln86Ter) rs387906689
NM_005213.4(CSTA):c.67-2A>T rs398122804
NM_012114.3(CASP14):c.462_463del (p.Asp154fs) rs769277893
NM_021628.3(ALOXE3):c.1186C>A (p.Arg396Ser) rs121434234
NM_021628.3(ALOXE3):c.1280T>C (p.Leu427Pro) rs1355284797
NM_021628.3(ALOXE3):c.1498G>T (p.Val500Phe) rs121434232
NM_021628.3(ALOXE3):c.842G>T (p.Gly281Val) rs786205120
NM_021978.4(ST14):c.2034del (p.Leu678fs) rs587777263
NM_021978.4(ST14):c.2269+1G>A rs587777262
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.4(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_148897.3(SDR9C7):c.364dup (p.Thr122fs) rs760309815
NM_173076.3(ABCA12):c.(872+1_873-1)_(985+1_986-1)del (p.Ser291Argfs)
NM_173076.3(ABCA12):c.3535G>A (p.Gly1179Arg) rs267606622
NM_173076.3(ABCA12):c.3656C>T (p.Ala1219Val) rs80181772
NM_173076.3(ABCA12):c.4142G>A (p.Gly1381Glu) rs28940268
NM_173076.3(ABCA12):c.4615G>A (p.Glu1539Lys) rs28940271
NM_173076.3(ABCA12):c.5012del (p.Asn1671fs) rs387906285
NM_173076.3(ABCA12):c.7323del (p.Val2442fs) rs387906284
NM_173076.3(ABCA12):c.859C>T (p.Arg287Ter) rs11891778
NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) rs118203936
NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) rs1360295659
NM_177973.2(SULT2B1):c.364dup (p.Met122fs) rs1114167425
NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) rs1114167424
NM_177973.2(SULT2B1):c.71+2T>A rs1114167426
TGM1, -86C-T

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