List of variants in gene combination ASCL1, PAH reported as uncertain significance for neurocristopathy

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del)	rs756714075
NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)	rs533680685
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)	rs267606667

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