ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive congenital ichthyosis by Baylor Genetics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.461G>A (p.Arg154Gln) rs779288178 0.00010
NM_173483.4(CYP4F22):c.470G>A (p.Arg157His) rs199641250 0.00008
NM_012114.3(CASP14):c.328G>A (p.Glu110Lys) rs140739098 0.00006
NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) rs752051700 0.00001
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) rs768784091 0.00001
NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) rs1046226453 0.00001
NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser) rs367993555
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_012114.3(CASP14):c.332C>T (p.Ala111Val) rs868415794

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