ClinVar Miner

List of variants in gene OTOG reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.4606C>T (p.Leu1536Phe) rs117380920 0.00806
NM_001292063.2(OTOG):c.5235C>A (p.Leu1745=) rs193083374 0.00701
NM_001292063.2(OTOG):c.3351G>A (p.Pro1117=) rs146781877 0.00639
NM_001292063.2(OTOG):c.8542-8C>T rs182750732 0.00565
NM_001292063.2(OTOG):c.8416-16G>A rs146753764 0.00537
NM_001292063.2(OTOG):c.3683C>T (p.Pro1228Leu) rs117005078 0.00338
NM_001292063.2(OTOG):c.843G>A (p.Lys281=) rs570688276 0.00312
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) rs76461792 0.00308
NM_001292063.2(OTOG):c.2398G>A (p.Asp800Asn) rs141010212 0.00287
NM_001292063.2(OTOG):c.1104-4A>C rs149163390 0.00257
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.4022G>A (p.Arg1341Gln) rs145689709 0.00242
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.8369G>A (p.Arg2790His) rs117315845 0.00188
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.1285C>T (p.Arg429Trp) rs199968574 0.00166
NM_001292063.2(OTOG):c.5252G>A (p.Arg1751His) rs185432248 0.00122
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp) rs764159927 0.00061
NM_001292063.2(OTOG):c.8538C>T (p.Thr2846=) rs201952556 0.00061
NM_001292063.2(OTOG):c.8646G>A (p.Leu2882=) rs542151771 0.00058
NM_001292063.2(OTOG):c.1050C>T (p.His350=) rs575344158 0.00053
NM_001292063.2(OTOG):c.1323C>T (p.Asp441=) rs571886426 0.00051
NM_001292063.2(OTOG):c.8019C>T (p.Ala2673=) rs531303093 0.00050
NM_001292063.2(OTOG):c.7209C>T (p.Ser2403=) rs56236649 0.00048
NM_001292063.2(OTOG):c.8322C>T (p.Cys2774=) rs539684481 0.00048
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00033
NM_001292063.2(OTOG):c.6536T>C (p.Val2179Ala) rs770039471 0.00029
NM_001292063.2(OTOG):c.8018C>A (p.Ala2673Asp) rs563948391 0.00023
NM_001292063.2(OTOG):c.540+8C>T rs1027600196 0.00016
NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=) rs570611759 0.00014
NM_001292063.2(OTOG):c.4629C>T (p.Ala1543=) rs547273913 0.00011
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001292063.2(OTOG):c.8252C>T (p.Ser2751Phe) rs201728749 0.00009
NM_001292063.2(OTOG):c.3664C>T (p.Arg1222Ter) rs560339163 0.00005
NM_001292063.2(OTOG):c.3740G>A (p.Ser1247Asn) rs955374063 0.00004
NM_001292063.2(OTOG):c.6444C>T (p.His2148=) rs776163972 0.00004
NM_001292063.2(OTOG):c.7723G>A (p.Glu2575Lys) rs747421330 0.00004
NM_001292063.2(OTOG):c.8653C>T (p.Arg2885Cys) rs185641221 0.00004
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_001292063.2(OTOG):c.7464C>T (p.Cys2488=) rs774023506 0.00003
NM_001292063.2(OTOG):c.3053G>A (p.Cys1018Tyr) rs1330184425 0.00002
NM_001292063.2(OTOG):c.6251G>A (p.Arg2084Gln) rs1395557172 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001277269.2(OTOG):c.7517-5_7518dup rs1295062471
NM_001292063.2(OTOG):c.1830C>T (p.Asn610=) rs1354880626
NM_001292063.2(OTOG):c.2214C>A (p.Cys738Ter)
NM_001292063.2(OTOG):c.2271C>T (p.Phe757=)
NM_001292063.2(OTOG):c.2278C>T (p.Arg760Cys)
NM_001292063.2(OTOG):c.238G>A (p.Val80Met)
NM_001292063.2(OTOG):c.2481C>G (p.Val827=)
NM_001292063.2(OTOG):c.2723G>T (p.Arg908Leu) rs144060182
NM_001292063.2(OTOG):c.3401C>T (p.Ala1134Val)
NM_001292063.2(OTOG):c.3684G>A (p.Pro1228=)
NM_001292063.2(OTOG):c.4719A>T (p.Ala1573=)
NM_001292063.2(OTOG):c.5008C>A (p.Pro1670Thr)
NM_001292063.2(OTOG):c.5284T>A (p.Ser1762Thr)
NM_001292063.2(OTOG):c.5517T>C (p.Thr1839=)
NM_001292063.2(OTOG):c.5650A>G (p.Thr1884Ala)
NM_001292063.2(OTOG):c.5856C>T (p.Ala1952=)
NM_001292063.2(OTOG):c.6061G>A (p.Val2021Ile)
NM_001292063.2(OTOG):c.6120T>C (p.Cys2040=)
NM_001292063.2(OTOG):c.6132C>T (p.Ala2044=)
NM_001292063.2(OTOG):c.7611A>C (p.Ala2537=)
NM_001292063.2(OTOG):c.8019_8020delinsTA (p.Pro2674Thr)
NM_001292063.2(OTOG):c.8036G>A (p.Arg2679His) rs766229978
NM_001292063.2(OTOG):c.8091C>T (p.Gly2697=)
NM_001292063.2(OTOG):c.8155ACC[1] (p.Thr2720del)
NM_001292063.2(OTOG):c.8607C>T (p.Thr2869=)
NM_001292063.2(OTOG):c.906G>A (p.Trp302Ter)

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