ClinVar Miner

List of variants in gene EFTUD2 reported as likely pathogenic for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.2045+2T>G rs863224868
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) rs1597789186
NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) rs1555564126

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