List of variants in gene AP1S2 reported as likely pathogenic for Pettigrew syndrome

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001272071.2(AP1S2):c.-1+1G>A	rs1934288587
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)	rs2519929822
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)	rs1933972061
NM_001272071.2(AP1S2):c.357del (p.Glu121fs)

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