ClinVar Miner

List of variants in gene ALOX12B reported as benign for autosomal recessive congenital ichthyosis 2

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1532+30T>C rs2289586 0.86344
NM_001139.3(ALOX12B):c.1655-30T>C rs12937410 0.85718
NM_001139.3(ALOX12B):c.650+7C>G rs2304908 0.42027
NM_001139.3(ALOX12B):c.-155T>C rs2278635 0.41263
NM_001139.3(ALOX12B):c.42C>T (p.Leu14=) rs3027308 0.03900
NM_001139.3(ALOX12B):c.-158G>T rs116492351 0.03320
NM_001139.3(ALOX12B):c.280G>A (p.Gly94Ser) rs8077661 0.00924
NM_001139.3(ALOX12B):c.1533-11C>G rs199760981 0.00167
NM_001139.3(ALOX12B):c.222C>T (p.Tyr74=) rs74896368 0.00071
NM_001139.3(ALOX12B):c.*66C>T rs74252603 0.00064
NM_001139.3(ALOX12B):c.147+59_147+60del rs112884117

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