ClinVar Miner

List of variants in gene NIPAL4 reported as likely benign for Autosomal recessive congenital ichthyosis 6

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Total variants: 6
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HGVS dbSNP gnomAD frequency
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.544G>T (p.Val182Phe) rs540992129 0.00019

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