ClinVar Miner

List of variants reported as benign for Autosomal recessive congenital ichthyosis 5

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.*183T>G rs2280436 0.78681
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.*262C>A rs2280435 0.49259
NM_173483.4(CYP4F22):c.368-24C>T rs4310987 0.33472
NM_173483.4(CYP4F22):c.582G>A (p.Ala194=) rs11666601 0.09265
NM_173483.4(CYP4F22):c.532A>T (p.Ser178Cys) rs16980531 0.03714
NM_173483.4(CYP4F22):c.367+5G>A rs73512652 0.03147
NM_173483.4(CYP4F22):c.447T>C (p.Gly149=) rs114980833 0.02258
NM_173483.4(CYP4F22):c.1513A>C (p.Lys505Gln) rs7256787 0.02189
NM_173483.4(CYP4F22):c.368-9C>G rs76015551 0.01035
NM_173483.4(CYP4F22):c.*90C>A rs76748339 0.00673
NM_173483.4(CYP4F22):c.587C>G (p.Ser196Cys) rs79603814 0.00647
NM_173483.4(CYP4F22):c.*450C>A rs2280434
NM_173483.4(CYP4F22):c.939+15_939+16del rs537649124

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