ClinVar Miner

List of variants reported as likely benign for deafness-encephaloneuropathy-obesity-valvulopathy syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_014317.5(PDSS1):c.*3A>G	rs115180525	0.00350
NM_014317.5(PDSS1):c.*264A>T	rs144623506	0.00283
NM_014317.5(PDSS1):c.426G>A (p.Ala142=)	rs149274703	0.00003

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