ClinVar Miner

List of variants reported as benign for autosomal recessive congenital ichthyosis

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 183
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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_001099287.2(NIPAL4):c.*1356T>C rs6556051 0.84570
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_173483.4(CYP4F22):c.*183T>G rs2280436 0.78681
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_173483.4(CYP4F22):c.*262C>A rs2280435 0.49259
NM_173076.3(ABCA12):c.5381+95G>T rs17493319 0.49128
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_001099287.2(NIPAL4):c.*910A>T rs3822692 0.47331
NM_177973.2(SULT2B1):c.834C>T (p.Cys278=) rs1132054 0.43983
NM_021628.3(ALOXE3):c.1685-117A>G rs2289587 0.43486
NM_021628.3(ALOXE3):c.*356A>C rs3809882 0.43006
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_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_021978.4(ST14):c.1684+38C>T rs11221995 0.41747
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
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_001099287.1(NIPAL4):c.-10A>G rs1105282 0.37314
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_001099287.2(NIPAL4):c.*782T>C rs3734029 0.27002
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_021628.3(ALOXE3):c.-300C>G rs3027229 0.14510
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala) rs3169983 0.12469
NM_000423.3(KRT2):c.301A>G (p.Ser101Gly) rs2634041 0.11972
NM_000423.3(KRT2):c.656G>A (p.Gly219Asp) rs638043 0.10514
NM_173483.4(CYP4F22):c.582G>A (p.Ala194=) rs11666601 0.09265
NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) rs61743233 0.09106
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001099287.2(NIPAL4):c.*1647T>C rs11749762 0.07540
NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=) rs71428357 0.07520
NM_001099287.2(NIPAL4):c.*79C>T rs9313608 0.06391
NM_001099287.2(NIPAL4):c.*566C>A rs10476052 0.06380
NM_000359.3(TGM1):c.-182C>T rs2273301 0.05480
NM_001099287.2(NIPAL4):c.*1733G>T rs11739062 0.05086
NM_000359.3(TGM1):c.726G>A (p.Glu242=) rs35755034 0.04892
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_173483.4(CYP4F22):c.532A>T (p.Ser178Cys) rs16980531 0.03714
NM_001099287.2(NIPAL4):c.*1140G>T rs74580303 0.03607
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_173483.4(CYP4F22):c.367+5G>A rs73512652 0.03147
NM_000359.3(TGM1):c.366G>A (p.Ser122=) rs17102410 0.03062
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_000423.3(KRT2):c.1650C>T (p.Gly550=) rs2232562 0.02388
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_021628.3(ALOXE3):c.785-14C>T rs113539426 0.02299
NM_021628.3(ALOXE3):c.-99C>G rs112227180 0.02269
NM_173483.4(CYP4F22):c.447T>C (p.Gly149=) rs114980833 0.02258
NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln) rs7256787 0.02189
NM_021628.3(ALOXE3):c.*111T>C rs75605551 0.02113
NM_021628.3(ALOXE3):c.1543A>G (p.Ile515Val) rs3027205 0.01586
NM_000423.3(KRT2):c.168C>T (p.Gly56=) rs637247 0.01409
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_000423.3(KRT2):c.*447C>T rs3825222 0.01383
NM_001099287.2(NIPAL4):c.*1221C>T rs78888263 0.01299
NM_000423.3(KRT2):c.1550C>G (p.Ala517Gly) rs35043606 0.01192
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_021628.3(ALOXE3):c.680+9A>G rs3027214 0.01052
NM_021628.3(ALOXE3):c.555-14C>G rs116310580 0.01050
NM_173483.4(CYP4F22):c.368-9C>G rs76015551 0.01035
NM_021628.3(ALOXE3):c.2032C>T (p.Arg678Cys) rs143246503 0.01031
NM_000423.3(KRT2):c.*335A>G rs141659798 0.00961
NM_000423.3(KRT2):c.*215C>T rs117041267 0.00953
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_000423.3(KRT2):c.317G>A (p.Ser106Asn) rs74660757 0.00875
NM_021628.3(ALOXE3):c.2019C>T (p.Ala673=) rs148295244 0.00781
NM_000359.3(TGM1):c.54G>A (p.Gln18=) rs41295336 0.00761
NM_021628.3(ALOXE3):c.148-11G>C rs114372253 0.00716
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_173483.4(CYP4F22):c.*90C>A rs76748339 0.00673
NM_021628.3(ALOXE3):c.*24A>G rs111342695 0.00658
NM_173483.4(CYP4F22):c.587C>G (p.Ser196Cys) rs79603814 0.00647
NM_000359.3(TGM1):c.2264C>T (p.Ser755Leu) rs35926651 0.00599
NM_000423.3(KRT2):c.*300T>C rs58532645 0.00588
NM_000359.3(TGM1):c.285C>T (p.Ser95=) rs2228336 0.00581
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_000423.3(KRT2):c.1249-7G>T rs2232556 0.00472
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.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601 0.00421
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_000359.3(TGM1):c.1819C>T (p.Arg607Cys) rs2229464 0.00382
NM_000423.3(KRT2):c.58C>T (p.Arg20Trp) rs141817495 0.00315
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_000423.3(KRT2):c.100C>T (p.Arg34Trp) rs35460418 0.00270
NM_000359.3(TGM1):c.394G>A (p.Asp132Asn) rs2229462 0.00244
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000423.3(KRT2):c.1500T>C (p.Thr500=) rs142620105 0.00133
NM_000423.3(KRT2):c.1289G>A (p.Arg430His) rs2232557 0.00123
NM_000423.3(KRT2):c.*279T>C rs146357787 0.00110
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000423.3(KRT2):c.348C>T (p.Gly116=) rs145263416 0.00099
NM_000423.3(KRT2):c.*354C>T rs138563926 0.00098
NM_000423.3(KRT2):c.*42T>C rs2232563 0.00086
NM_000423.3(KRT2):c.1281C>T (p.Ala427=) rs143712313 0.00074
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000423.3(KRT2):c.767A>G (p.Asn256Ser) rs144222539 0.00043
NM_000359.3(TGM1):c.2258G>A (p.Arg753His) rs202020907 0.00029
NM_000423.3(KRT2):c.1203C>T (p.Arg401=) rs375452938 0.00025
NM_000359.3(TGM1):c.319+8C>T rs41295342 0.00021
NM_000423.3(KRT2):c.474C>T (p.Ser158=) rs372572918 0.00014
NM_173076.3(ABCA12):c.1376G>C (p.Ser459Thr) rs113112835 0.00014
NM_000423.3(KRT2):c.133C>T (p.Arg45Cys) rs202186833 0.00013
NM_000423.3(KRT2):c.536G>A (p.Arg179His) rs202243677 0.00012
NM_000423.3(KRT2):c.1272C>T (p.Ile424=) rs753957075 0.00011
NM_000423.3(KRT2):c.1478G>T (p.Gly493Val) rs374913826 0.00010
NM_000423.3(KRT2):c.1699G>A (p.Gly567Ser) rs199836359 0.00010
NM_000423.3(KRT2):c.*411C>T rs542479365 0.00008
NM_000423.3(KRT2):c.940A>G (p.Lys314Glu) rs139316403 0.00008
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000359.3(TGM1):c.66G>A (p.Thr22=) rs756448718 0.00006
NM_000423.3(KRT2):c.1249-4A>G rs759623198 0.00004
NM_000423.3(KRT2):c.1698C>T (p.Gly566=) rs186531871 0.00004
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_000423.3(KRT2):c.339C>T (p.Phe113=) rs532474326 0.00003
NM_000423.3(KRT2):c.861+6C>G rs556825530 0.00003
NM_000423.3(KRT2):c.1147G>A (p.Gly383Arg) rs527533989 0.00002
NM_000423.3(KRT2):c.823C>G (p.Arg275Gly) rs2232551 0.00002
NM_000423.3(KRT2):c.407G>A (p.Gly136Glu) rs544732271 0.00001
NM_000359.3(TGM1):c.1146C>A (p.Gly382=) rs1126432
NM_000423.3(KRT2):c.303_304insGGC (p.Ser101_Phe102insGly) rs56850150
NM_000423.3(KRT2):c.492C>T (p.Asn164=) rs201708557
NM_000423.3(KRT2):c.589C>A (p.Arg197=) rs201344610
NM_001099287.2(NIPAL4):c.*804T>A rs80315032
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_021628.3(ALOXE3):c.*391C>A rs80115129
NM_021628.3(ALOXE3):c.1305+15del rs58194728
NM_173076.3(ABCA12):c.*1052_*1055dup rs71399158
NM_173483.4(CYP4F22):c.*450C>A rs2280434
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124

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