ClinVar Miner

List of variants reported as not provided for autosomal recessive nonsyndromic hearing loss 86

Included ClinVar conditions (3):

Autosomal recessive nonsyndromic hearing loss 86
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65

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Minimum conflict level: Report conflict between different conditions
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_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)	rs483352866	0.00001
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)	rs766769998

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