ClinVar Miner

List of variants in gene NIPAL4 studied for Autosomal recessive congenital ichthyosis 6

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Gene type:
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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001099287.2(NIPAL4):c.1116T>C (p.Val372=) rs4704870 0.97772
NM_001099287.2(NIPAL4):c.*1356T>C rs6556051 0.84570
NM_001099287.2(NIPAL4):c.451A>G (p.Arg151Gly) rs6860507 0.47353
NM_001099287.2(NIPAL4):c.*910A>T rs3822692 0.47331
NM_001099287.2(NIPAL4):c.*782T>C rs3734029 0.27002
NM_001099287.2(NIPAL4):c.1172C>T (p.Ser391Leu) rs61743233 0.09106
NM_001099287.2(NIPAL4):c.*1647T>C rs11749762 0.07540
NM_001099287.2(NIPAL4):c.*79C>T rs9313608 0.06391
NM_001099287.2(NIPAL4):c.*566C>A rs10476052 0.06380
NM_001099287.2(NIPAL4):c.*1733G>T rs11739062 0.05086
NM_001099287.2(NIPAL4):c.*1140G>T rs74580303 0.03607
NM_001099287.2(NIPAL4):c.*1221C>T rs78888263 0.01299
NM_001099287.2(NIPAL4):c.*227T>A rs181287300 0.00529
NM_001099287.2(NIPAL4):c.*228C>G rs184168328 0.00529
NM_001099287.2(NIPAL4):c.*623T>C rs138577196 0.00441
NM_001099287.2(NIPAL4):c.*32C>T rs62388499 0.00347
NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala) rs183419459 0.00310
NM_001099287.2(NIPAL4):c.*730C>T rs549237990 0.00142
NM_001099287.2(NIPAL4):c.335-9G>A rs200183918 0.00106
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met) rs188020393 0.00101
NM_001099287.2(NIPAL4):c.*742C>T rs528240529 0.00083
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001099287.2(NIPAL4):c.193C>T (p.Leu65=) rs374829524 0.00066
NM_001099287.2(NIPAL4):c.*1130C>T rs574842707 0.00058
NM_001099287.2(NIPAL4):c.*1603A>C rs555052598 0.00048
NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile) rs137909022 0.00037
NM_001099287.2(NIPAL4):c.*1347T>A rs567119200 0.00031
NM_001099287.2(NIPAL4):c.653G>A (p.Arg218His) rs200033975 0.00028
NM_001099287.2(NIPAL4):c.*1069A>C rs544326627 0.00022
NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe) rs540992129 0.00019
NM_001099287.2(NIPAL4):c.*1679C>T rs886060349 0.00016
NM_001099287.2(NIPAL4):c.*1492C>T rs538345909 0.00014
NM_001099287.2(NIPAL4):c.306T>C (p.Asp102=) rs201852049 0.00014
NM_001099287.2(NIPAL4):c.*290G>A rs377678793 0.00009
NM_001099287.2(NIPAL4):c.587-5C>A rs200497471 0.00009
NM_001099287.2(NIPAL4):c.*23G>A rs371793304 0.00006
NM_001099287.2(NIPAL4):c.*445T>C rs530832561 0.00006
NM_001099287.2(NIPAL4):c.*992C>A rs886060345 0.00006
NM_001099287.2(NIPAL4):c.239G>T (p.Gly80Val) rs775903553 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006
NM_001099287.2(NIPAL4):c.*1248C>T rs143157684 0.00004
NM_001099287.2(NIPAL4):c.1104G>A (p.Pro368=) rs371736153 0.00004
NM_001099287.2(NIPAL4):c.408G>A (p.Ala136=) rs746660063 0.00002
NM_001099287.2(NIPAL4):c.*1394A>G rs886060347 0.00001
NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met) rs758037159 0.00001
NM_001099287.2(NIPAL4):c.265G>A (p.Ala89Thr) rs373963950 0.00001
NM_001099287.2(NIPAL4):c.311T>C (p.Met104Thr) rs748570297 0.00001
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg) rs370356566 0.00001
NM_001099287.2(NIPAL4):c.523C>G (p.His175Asp) rs750991783 0.00001
NM_001099287.2(NIPAL4):c.523del (p.His175fs) rs1212378071 0.00001
NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=) rs753530888 0.00001
NM_001099287.2(NIPAL4):c.658G>A (p.Gly220Arg) rs757041309 0.00001
NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=) rs777285586 0.00001
A114N
NM_001099287.2(NIPAL4):c.*1208T>C rs1754520474
NM_001099287.2(NIPAL4):c.*135T>C rs1011045044
NM_001099287.2(NIPAL4):c.*1706C>A rs886060350
NM_001099287.2(NIPAL4):c.*576G>C rs1754500956
NM_001099287.2(NIPAL4):c.*804T>A rs80315032
NM_001099287.2(NIPAL4):c.*903G>A rs148733170
NM_001099287.2(NIPAL4):c.*97A>G rs542842127
NM_001099287.2(NIPAL4):c.1057G>A (p.Ala353Thr) rs367993555
NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser) rs367993555
NM_001099287.2(NIPAL4):c.1082del (p.Asn361fs) rs1581273254
NM_001099287.2(NIPAL4):c.145A>C (p.Arg49=) rs886060337
NM_001099287.2(NIPAL4):c.221T>A (p.Val74Asp) rs1581265715
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216
NM_001099287.2(NIPAL4):c.284G>A (p.Gly95Glu) rs900769357
NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val) rs1754294654
NM_001099287.2(NIPAL4):c.348A>C (p.Glu116Asp) rs371608909
NM_001099287.2(NIPAL4):c.369C>G (p.Tyr123Ter) rs777992589
NM_001099287.2(NIPAL4):c.37+5G>C rs1452328130
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
NM_001099287.2(NIPAL4):c.425+1G>A rs1581269752
NM_001099287.2(NIPAL4):c.426-3del rs1581271844
NM_001099287.2(NIPAL4):c.437C>T (p.Ser146Phe) rs1581271869
NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=) rs375721791
NM_001099287.2(NIPAL4):c.509C>G (p.Thr170Arg) rs1581272003
NM_001099287.2(NIPAL4):c.520_526del (p.Ile174fs) rs1561831443
NM_001099287.2(NIPAL4):c.586+1G>A rs1561831582
NM_001099287.2(NIPAL4):c.650C>T (p.Pro217Leu) rs1027052344
NM_001099287.2(NIPAL4):c.753C>G (p.Asn251Lys) rs1581272834
NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln) rs886060338
NM_001099287.2(NIPAL4):c.828C>A (p.Ser276Arg) rs886060339
NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=) rs886060339
NM_001099287.2(NIPAL4):c.834G>T (p.Gln278His)
NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His) rs2113670374
NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile) rs772312298
NM_001099287.2(NIPAL4):c.897C>A (p.Tyr299Ter) rs373501601
NM_001099287.2(NIPAL4):c.97del (p.Leu33fs) rs1581265561

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