ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive congenital ichthyosis 6 by Illumina Laboratory Services, Illumina

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Total variants: 47
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HGVS dbSNP gnomAD frequency
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.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_001099287.1(NIPAL4):c.-98C>T rs886766905 0.00017
NM_001099287.2(NIPAL4):c.*1679C>T rs886060349 0.00016
NM_001099287.1(NIPAL4):c.-24C>A rs768159429 0.00015
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.277+5G>A rs376074083 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_001099287.1(NIPAL4):c.-121C>A rs1391976192 0.00001
NM_001099287.2(NIPAL4):c.*1394A>G rs886060347 0.00001
NM_001099287.2(NIPAL4):c.-71G>A rs759546301 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.657C>T (p.Tyr219=) rs753530888 0.00001
NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=) rs777285586 0.00001
NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=) rs886060336
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.*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.145A>C (p.Arg49=) rs886060337
NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val) rs1754294654
NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=) rs375721791
NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln) rs886060338
NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=) rs886060339
NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile) rs772312298

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