ClinVar Miner

List of variants in gene AP1B1 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NC_000022.10:g.29758984_29815476del
NM_001127.3(AP1B1):c.2335del (p.Leu779fs) rs1602683532
NM_001127.3(AP1B1):c.2374G>T (p.Glu792Ter) rs780548317
NM_001127.3(AP1B1):c.38-1G>A rs1602761438
NM_001127.3(AP1B1):c.430T>C (p.Cys144Arg) rs1602749299

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