ClinVar Miner

List of variants in gene combination ABI1, PDSS1 reported as uncertain significance for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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_014317.5(PDSS1):c.*147A>G	rs1836943381	0.00001
NM_014317.5(PDSS1):c.*262T>C	rs886046937

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