ClinVar Miner

List of variants in gene ALOX12B, SNORD118 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1275+30_1275+35del rs1977098048
NM_001139.3(ALOX12B):c.1275+77_1275+105dup rs1977096738
NM_001139.3(ALOX12B):c.1275+78G>A rs1167153704

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