ClinVar Miner

List of variants in gene OTOG reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00093
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001292063.2(OTOG):c.6575G>T (p.Gly2192Val) rs536834261 0.00024
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001292063.2(OTOG):c.4013G>A (p.Arg1338Gln) rs767859660 0.00016
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001292063.2(OTOG):c.4726A>G (p.Thr1576Ala) rs531217323 0.00009
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00006
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00003
NM_001292063.2(OTOG):c.6249G>T (p.Val2083=) rs774355599 0.00001
NM_001292063.2(OTOG):c.6780G>A (p.Glu2260=) rs1311411933 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001292063.2(OTOG):c.8212C>T (p.Arg2738Trp) rs755224664 0.00001
NM_001292063.2(OTOG):c.94G>A (p.Ala32Thr) rs565203765 0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001292063.2(OTOG):c.6679A>G (p.Lys2227Glu) rs1554978000
NM_001292063.2(OTOG):c.8662C>T (p.Gln2888Ter) rs1565133807

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