RS111033405 OTOF

Health Risk Chr 2:26465752 snv missense variant
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What This Variant Does
"CLNSIG=255
Associated Conditions
Autosomal recessive nonsyndromic hearing loss 9
Rare genetic deafness
Nonsyndromic genetic hearing loss
Bilateral sensorineural hearing impairment
OTOF-related disorder
Autosomal recessive nonsyndromic hearing loss 9
Rare genetic deafness
Nonsyndromic genetic hearing loss
Bilateral sensorineural hearing impairment
OTOF-related disorder
Population Frequencies
gnomAD ALL
0%
Other Variants in OTOF
rs80356600 rs80356584 rs2148047884 rs80356605 rs80356593 rs28937591 rs80356602 rs121908598 rs80356596 rs80356586
Ask Dr. Hemsworth about this variant