ClinVar Miner

List of variants in gene OTOA studied for obsolete rare genetic deafness

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_144672.3(OTOA):c.(?_2302)_(2431_?)del
NM_144672.4(OTOA):c.1688+1G>T rs727503350
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_144672.4(OTOA):c.268-2A>G rs770892393
NM_144672.4(OTOA):c.2960_2961del (p.His987fs)
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) rs876657716
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996

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