ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis by Genome-Nilou Lab

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.4163+20T>C rs7559069 0.99890
NM_173076.3(ABCA12):c.1657+72A>G rs1403835 0.99785
NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr) rs7560008 0.99785
NM_173076.3(ABCA12):c.2864-105C>T rs2049361 0.99567
NM_001378789.1(CERS3):c.1108A>G (p.Arg370Gly) rs2439928 0.98616
NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) rs4704870 0.97772
NM_173076.3(ABCA12):c.163+89T>A rs2948978 0.96626
NM_021978.4(ST14):c.1015+40A>G rs610005 0.89653
NM_001139.3(ALOX12B):c.1532+30T>C rs2289586 0.86344
NM_001139.3(ALOX12B):c.1655-30T>C rs12937410 0.85718
NM_021978.4(ST14):c.1223+29G>A rs858713 0.84758
NM_000359.3(TGM1):c.*4C>T rs2229463 0.79724
NM_021978.4(ST14):c.1113+15G>A rs597661 0.79383
NM_021978.4(ST14):c.875+23A>G rs858704 0.78708
NM_001378789.1(CERS3):c.159A>G (p.Arg53=) rs1354332 0.77863
NM_173483.4(CYP4F22):c.939+25C>G rs62113202 0.76022
NM_173483.4(CYP4F22):c.939+21_939+22del rs372183725 0.76019
NM_173076.3(ABCA12):c.3294+36C>T rs1980844 0.73434
NM_173076.3(ABCA12):c.4383-70G>T rs4610055 0.71320
NM_001378789.1(CERS3):c.999+60G>A rs12595207 0.69413
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_173076.3(ABCA12):c.164-30C>G rs1523721 0.63341
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106 0.59526
NM_002640.4(SERPINB8):c.1076A>G (p.His359Arg) rs3826616 0.52652
NM_173076.3(ABCA12):c.7105-17C>T rs2274412 0.52421
NM_173076.3(ABCA12):c.5778+29T>C rs4673925 0.51362
NM_173076.3(ABCA12):c.5381+95G>T rs17493319 0.49128
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_177973.2(SULT2B1):c.834C>T (p.Cys278=) rs1132054 0.43983
NM_021628.3(ALOXE3):c.1685-117A>G rs2289587 0.43486
NM_001378789.1(CERS3):c.845+53C>T rs12909732 0.42838
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_021628.3(ALOXE3):c.1685-150G>A rs2289588 0.42468
NM_021978.4(ST14):c.1684+38C>T rs11221995 0.41747
NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=) rs10498027 0.40571
NM_173076.3(ABCA12):c.*26G>A rs17426207 0.39585
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_021628.3(ALOXE3):c.2124C>T (p.Ser708=) rs3809881 0.39411
NM_001374623.1(PNPLA1):c.776-35G>A rs10947600 0.39147
NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln) rs1944270 0.37248
NM_173076.3(ABCA12):c.3295-25C>T rs4533467 0.35976
NM_000423.3(KRT2):c.150C>T (p.Gly50=) rs11835758 0.35932
NM_173483.4(CYP4F22):c.368-24C>T rs4310987 0.33472
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_002640.4(SERPINB8):c.477G>A (p.Leu159=) rs11537989 0.27903
NM_001165960.1(ALOXE3):c.32C>T (p.Pro11Leu) rs3027232 0.27769
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_177973.2(SULT2B1):c.637C>T (p.Leu213=) rs2302948 0.21601
NM_173076.3(ABCA12):c.3033A>G (p.Pro1011=) rs10498030 0.19721
NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=) rs34351934 0.18947
NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala) rs3169983 0.12469
NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=) rs71428357 0.07520
NM_000359.3(TGM1):c.726G>A (p.Glu242=) rs35755034 0.04892
NM_173483.4(CYP4F22):c.367+5G>A rs73512652 0.03147
NM_000359.3(TGM1):c.366G>A (p.Ser122=) rs17102410 0.03062
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_000359.3(TGM1):c.54G>A (p.Gln18=) rs41295336 0.00761
NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu) rs35926651 0.00599
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000359.3(TGM1):c.1645+5C>A rs187575724 0.00468
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149 0.00439
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_000359.3(TGM1):c.361C>T (p.Arg121Cys) rs80145541 0.00384
NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys) rs2229464 0.00382
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_000359.3(TGM1):c.2221G>A (p.Val741Ile) rs141864003 0.00015
NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) rs121918720 0.00011
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) rs531650682 0.00009
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
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_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) rs140000324 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) rs773303931 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.1042C>T (p.Arg348Ter) rs1296165092 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.2278C>T (p.Arg760Ter) rs398122904 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.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) rs367699137 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 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_000359.3(TGM1):c.1074C>G (p.Ser358Arg) rs779287673
NM_000359.3(TGM1):c.1146C>A (p.Gly382=) rs1126432
NM_000359.3(TGM1):c.1147G>A (p.Val383Met) rs121918722
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.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) rs121918721
NM_000359.3(TGM1):c.1264A>T (p.Lys422Ter) rs563305936
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.566dup (p.Ser190fs) rs1211601030
NM_000359.3(TGM1):c.679C>T (p.Gln227Ter) rs972054392
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_001102469.2(LIPN):c.297T>C (p.Ala99=) rs430517
NM_001102469.2(LIPN):c.731C>A (p.Thr244Asn) rs10788611
NM_001139.3(ALOX12B):c.147+59_147+60del rs112884117
NM_001378789.1(CERS3):c.*75C>A rs1023782
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124

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