List of variants in gene PAX1 reported as pathogenic for mandibulofacial dysostosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001257096.2(PAX1):c.1104C>A (p.Cys368Ter)	rs1158294764
NM_001257096.2(PAX1):c.1169_1173dup (p.Pro392fs)	rs1555804780
NM_001257096.2(PAX1):c.158C>A (p.Ser53Ter)
NM_001257096.2(PAX1):c.439G>C (p.Val147Leu)	rs1985007962
NM_001257096.2(PAX1):c.463_465del (p.Asn155del)	rs1985008715
NM_001257096.2(PAX1):c.497G>T (p.Gly166Val)	rs540296842

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