ClinVar Miner

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

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_173076.3(ABCA12):c.*539dup rs139753893 0.07781
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_173483.4(CYP4F22):c.177C>T (p.Phe59=) rs118091316 0.00847
NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr) rs148979792 0.00710
NM_021628.3(ALOXE3):c.*87C>T rs75448808 0.00699
NM_021628.3(ALOXE3):c.-304G>T rs79377087 0.00560
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001099287.2(NIPAL4):c.*227T>A rs181287300 0.00529
NM_001099287.2(NIPAL4):c.*228C>G rs184168328 0.00529
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_173483.4(CYP4F22):c.693C>T (p.Ser231=) rs149616338 0.00491
NM_173483.4(CYP4F22):c.*26G>A rs146912509 0.00488
NM_001099287.2(NIPAL4):c.*623T>C rs138577196 0.00441
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_001139.3(ALOX12B):c.1179C>T (p.His393=) rs112835279 0.00365
NM_001099287.2(NIPAL4):c.*32C>T rs62388499 0.00347
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala) rs183419459 0.00310
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_021628.3(ALOXE3):c.1786-10G>A rs148606343 0.00289
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337 0.00273
NM_173483.4(CYP4F22):c.51G>A (p.Thr17=) rs147808045 0.00242
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_021628.3(ALOXE3):c.*392G>A rs188419202 0.00210
NM_000423.2(KRT2):c.*466A>C rs188447443 0.00209
NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=) rs116399915 0.00187
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_173483.4(CYP4F22):c.*191G>T rs150837991 0.00169
NM_000359.3(TGM1):c.920G>A (p.Arg307Gln) rs146770534 0.00155
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_173483.4(CYP4F22):c.785G>A (p.Arg262Gln) rs141631745 0.00133
NM_000359.3(TGM1):c.411C>T (p.Asp137=) rs145002586 0.00113
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048 0.00102
NM_000359.3(TGM1):c.*162C>A rs8193035 0.00079
NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=) rs374248640 0.00064
NM_000359.3(TGM1):c.696G>A (p.Glu232=) rs149605227 0.00059
NM_000423.3(KRT2):c.*216G>A rs139377296 0.00057
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_000359.3(TGM1):c.660T>C (p.Phe220=) rs201493499 0.00040
NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu) rs150371678 0.00035
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000359.3(TGM1):c.876+10G>A rs201936986 0.00022
NM_001099287.1(NIPAL4):c.-41C>T rs555788817 0.00022
NM_000423.3(KRT2):c.134G>A (p.Arg45His) rs149447253 0.00021
NM_000359.3(TGM1):c.60T>C (p.Pro20=) rs145812304 0.00020
NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe) rs540992129 0.00019
NM_000359.3(TGM1):c.216G>A (p.Gly72=) rs771277378 0.00014
NM_000359.3(TGM1):c.540C>T (p.His180=) rs145981439 0.00014
NM_000423.3(KRT2):c.1720G>A (p.Gly574Arg) rs139954107 0.00013
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000359.3(TGM1):c.297A>G (p.Ala99=) rs41295340 0.00010
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000359.3(TGM1):c.1653C>T (p.Asp551=) rs2855111 0.00007
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000423.3(KRT2):c.1719C>T (p.Tyr573=) rs141769548 0.00006
NM_000359.3(TGM1):c.2439T>C (p.Ser813=) rs778402369 0.00005
NM_000423.3(KRT2):c.546C>A (p.Ile182=) rs371939083 0.00005
NM_000423.3(KRT2):c.294C>T (p.Gly98=) rs182369139 0.00004
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000423.3(KRT2):c.1204G>A (p.Val402Met) rs756976713 0.00003
NM_000359.3(TGM1):c.21C>T (p.Ser7=) rs150913268 0.00002
NM_000359.3(TGM1):c.1539C>T (p.Phe513=) rs1383613653 0.00001
NM_000359.3(TGM1):c.2254C>T (p.Leu752=) rs985569116 0.00001
NM_000423.3(KRT2):c.1373G>A (p.Arg458Gln) rs755662199 0.00001
NM_000359.3(TGM1):c.687C>T (p.Asp229=) rs143352384
NM_000359.3(TGM1):c.78GCCAGA[4] (p.26EP[4]) rs762513810
NM_001099287.2(NIPAL4):c.*405GTT[6] rs527401652
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914

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