List of variants in gene PPIL1 reported as likely pathogenic for central nervous system malformation

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_016059.5(PPIL1):c.280+1G>A	rs374639625	0.00003
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala)	rs553128312	0.00002
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)	rs1774516234	0.00001
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys)	rs1774173253	0.00001
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln)	rs765668519	0.00001
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser)	rs2150653717
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr)	rs199818754
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup)	rs2150653427
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala)	rs1583103432
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys)	rs2150653422

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