ClinVar Miner

List of variants in gene PRRX1 reported as pathogenic for agnathia-otocephaly complex

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP
NM_022716.4(PRRX1):c.266_269dup (p.Arg92fs) rs398122375
NM_022716.4(PRRX1):c.269del (p.Lys90fs) rs398122375
NM_022716.4(PRRX1):c.338T>C (p.Phe113Ser) rs387906667
NM_022716.4(PRRX1):c.691G>C (p.Ala231Pro)

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