ClinVar Miner

List of variants reported as pathogenic for autosomal recessive congenital ichthyosis 5

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.667C>T (p.Gln223Ter) rs199892192 0.00014
NM_173483.4(CYP4F22):c.59dup (p.Ile21fs) rs531800013 0.00011
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_173483.4(CYP4F22):c.976C>T (p.Arg326Ter) rs762667660 0.00006
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_173483.4(CYP4F22):c.847C>T (p.Arg283Trp) rs755885838 0.00003
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp) rs201129618 0.00002
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter) rs745368359 0.00001
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln) rs769229606 0.00001
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) rs749972738 0.00001
NM_173483.4(CYP4F22):c.421+1G>A rs773886415 0.00001
NM_173483.4(CYP4F22):c.466C>T (p.Arg156Cys) rs770500550 0.00001
NM_173483.4(CYP4F22):c.467G>A (p.Arg156His) rs776275777 0.00001
NM_173483.4(CYP4F22):c.697A>C (p.Ile233Leu) rs1568361250 0.00001
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys) rs768098854 0.00001
NM_173483.4(CYP4F22):c.728G>A (p.Arg243His) rs118203937 0.00001
NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp) rs767352854 0.00001
NG_007987.1:g.(26429_33751)_(48033_?)del
NM_173483.3(CYP4F22):c.1138del rs1568364107
NM_173483.4(CYP4F22):c.1084C>G (p.Arg362Gly) rs745368359
NM_173483.4(CYP4F22):c.1137-18_1137-4del rs1568364101
NM_173483.4(CYP4F22):c.1163C>A (p.Thr388Lys) rs1568364117
NM_173483.4(CYP4F22):c.1306C>G (p.His436Asp) rs118203936
NM_173483.4(CYP4F22):c.1351C>T (p.Arg451Cys) rs200581968
NM_173483.4(CYP4F22):c.1352G>C (p.Arg451Pro) rs144961059
NM_173483.4(CYP4F22):c.1424G>A (p.Cys475Tyr) rs1403531884
NM_173483.4(CYP4F22):c.1488C>G (p.Phe496Leu) rs1568365205
NM_173483.4(CYP4F22):c.1532A>G (p.Glu511Gly) rs1167473603
NM_173483.4(CYP4F22):c.1563G>A (p.Trp521Ter) rs1360295659
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_173483.4(CYP4F22):c.242G>A (p.Gly81Asp) rs369811073
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter) rs2144518363
NM_173483.4(CYP4F22):c.367+1G>A rs1568357749
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs) rs1382435790
NM_173483.4(CYP4F22):c.493_499delinsCTTGATT (p.Phe165_Ile167delinsLeuAspPhe) rs1568360348
NM_173483.4(CYP4F22):c.549+5G>C rs1568360387
NM_173483.4(CYP4F22):c.550-2A>T rs1568360475
NM_173483.4(CYP4F22):c.592G>T (p.Asp198Tyr) rs1568360526
NM_173483.4(CYP4F22):c.643_644del (p.Val215fs) rs1568360554
NM_173483.4(CYP4F22):c.720_723del (p.Val241fs) rs751937099
NM_173483.4(CYP4F22):c.912C>A (p.Asp304Glu) rs1159994392
NM_173483.4(CYP4F22):c.917T>C (p.Ile306Thr) rs370734976
NM_173483.4(CYP4F22):c.940-1G>A rs1568362605
NM_173483.4(CYP4F22):c.981del (p.Glu328fs) rs1568362644

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