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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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)	rs1571354325

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