ClinVar Miner

List of variants in gene OTOA reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.1630-5C>T rs215901 0.62768
NM_144672.4(OTOA):c.44T>A (p.Phe15Tyr) rs78970023 0.04754
NM_144672.4(OTOA):c.615C>T (p.Arg205=) rs16972658 0.03464
NM_144672.4(OTOA):c.2229C>T (p.Ala743=) rs461179 0.03046
NM_144672.4(OTOA):c.2382G>A (p.Gln794=) rs143890524 0.01441
NM_144672.4(OTOA):c.2238G>A (p.Thr746=) rs72640475 0.01270
NM_144672.4(OTOA):c.1095C>T (p.Gly365=) rs115543159 0.00963
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_144672.4(OTOA):c.92-11C>A rs117553471 0.00797
NM_144672.4(OTOA):c.1522G>A (p.Val508Met) rs150415498 0.00199
NM_144672.4(OTOA):c.2431+11T>C rs463192 0.00112
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala) rs138141474 0.00099
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val) rs145160241 0.00038
NM_144672.4(OTOA):c.921G>A (p.Ala307=) rs12051473 0.00027
NM_144672.4(OTOA):c.1141C>G (p.Gln381Glu) rs377581131 0.00002

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