ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_148897.3(SDR9C7):c.491G>A (p.Arg164His) rs749798308 0.00002
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter) rs1187032187

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