ClinVar Miner

List of variants in gene AEBP1 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs) rs1554327284
NM_001129.5(AEBP1):c.1470del (p.Asn490fs) rs1554327449
NM_001129.5(AEBP1):c.1630+1G>A rs369016031
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845
NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter) rs1443187318

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