ClinVar Miner

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

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Total variants: 14
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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_001099287.1(NIPAL4):c.-10A>G rs1105282 0.37314
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.*804T>A rs80315032

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