ClinVar Miner

List of variants in gene combination ARV1, LOC129932761 reported as uncertain significance for Developmental and epileptic encephalopathy, 38

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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_022786.3(ARV1):c.29A>G (p.Gln10Arg)	rs747844345	0.00002
NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)	rs778567340

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