ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 5 by Genome-Nilou Lab

Included ClinVar conditions (1):

Autosomal recessive congenital ichthyosis 5

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_173483.4(CYP4F22):c.939+25C>G	rs62113202	0.76022
NM_173483.4(CYP4F22):c.939+21_939+22del	rs372183725	0.76019
NM_173483.4(CYP4F22):c.368-24C>T	rs4310987	0.33472
NM_173483.4(CYP4F22):c.367+5G>A	rs73512652	0.03147
NM_173483.4(CYP4F22):c.939+15_939+16del	rs537649124

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