ClinVar Miner

List of variants in gene combination ASCL1, PAH reported as uncertain significance for Congenital central hypoventilation

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)	rs267606667	0.00001
NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)	rs533680685

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