ClinVar Miner

List of variants in gene OTOGL reported as uncertain significance for not specified

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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.3172A>G (p.Arg1058Gly) rs201186191 0.00068
NM_001378609.3(OTOGL):c.6613G>T (p.Ala2205Ser) rs374634079 0.00051
NM_001378609.3(OTOGL):c.3911A>T (p.His1304Leu) rs187723280 0.00047
NM_001378609.3(OTOGL):c.475C>T (p.Arg159Trp) rs191608225 0.00041
NM_001378609.3(OTOGL):c.3566A>G (p.Gln1189Arg) rs200392453 0.00029
NM_001378609.3(OTOGL):c.2560T>C (p.Phe854Leu) rs201487127 0.00016
NM_001378609.3(OTOGL):c.1561A>G (p.Thr521Ala) rs187504761 0.00015
NM_001378609.3(OTOGL):c.34C>A (p.Pro12Thr) rs539100194 0.00015
NM_001378609.3(OTOGL):c.5273C>T (p.Pro1758Leu) rs372958953 0.00012
NM_001378609.3(OTOGL):c.214T>C (p.Trp72Arg) rs369473810 0.00010
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.6832A>G (p.Arg2278Gly) rs372725776 0.00008
NM_001378609.3(OTOGL):c.1714A>G (p.Ile572Val) rs942588475 0.00006
NM_001378609.3(OTOGL):c.2945A>C (p.Asp982Ala) rs774797627 0.00006
NM_001378609.3(OTOGL):c.3434C>T (p.Ala1145Val) rs374368341 0.00006
NM_001378609.3(OTOGL):c.4860G>A (p.Lys1620=) rs753442959 0.00006
NM_001378609.3(OTOGL):c.3484G>A (p.Glu1162Lys) rs374891321 0.00004
NM_001378609.3(OTOGL):c.6901A>G (p.Thr2301Ala) rs778901457 0.00004
NM_001378609.3(OTOGL):c.4746T>A (p.Asn1582Lys) rs910949216 0.00003
NM_001378609.3(OTOGL):c.2165C>A (p.Ala722Asp) rs769499824 0.00002
NM_001378609.3(OTOGL):c.3263A>G (p.Asp1088Gly) rs12422945 0.00002
NM_001378609.3(OTOGL):c.4234A>G (p.Met1412Val) rs774172292 0.00002
NM_001378609.3(OTOGL):c.518C>T (p.Ser173Leu) rs377611164 0.00002
NM_001378609.3(OTOGL):c.1102G>A (p.Ala368Thr) rs767747155 0.00001
NM_001378609.3(OTOGL):c.1396G>T (p.Val466Leu) rs760941023 0.00001
NM_001378609.3(OTOGL):c.242G>A (p.Cys81Tyr) rs775349315 0.00001
NM_001378609.3(OTOGL):c.2506A>G (p.Thr836Ala) rs876657946 0.00001
NM_001378609.3(OTOGL):c.2849T>C (p.Ile950Thr) rs749226050 0.00001
NM_001378609.3(OTOGL):c.3277A>C (p.Asn1093His) rs867315415 0.00001
NM_001378609.3(OTOGL):c.3376C>A (p.Gln1126Lys) rs876657947 0.00001
NM_001378609.3(OTOGL):c.4231A>T (p.Asn1411Tyr) rs770438244 0.00001
NM_001378609.3(OTOGL):c.454G>T (p.Asp152Tyr) rs1399912212 0.00001
NM_001378609.3(OTOGL):c.5758G>T (p.Val1920Phe) rs768024118 0.00001
NM_001378609.3(OTOGL):c.647T>C (p.Ile216Thr) rs751591512 0.00001
NM_001378609.3(OTOGL):c.816A>G (p.Gln272=) rs772509606 0.00001
NM_001378609.3(OTOGL):c.937G>C (p.Ala313Pro) rs753400665 0.00001
GRCh37/hg19 12q21.31(chr12:80632582-80728257)
GRCh37/hg19 12q21.31(chr12:80632582-80741367)
NM_001378609.3(OTOGL):c.1582G>A (p.Glu528Lys) rs876657942
NM_001378609.3(OTOGL):c.1892C>G (p.Ser631Cys) rs373638514
NM_001378609.3(OTOGL):c.3323C>T (p.Ala1108Val) rs1592682793
NM_001378609.3(OTOGL):c.335-9del rs754987281
NM_001378609.3(OTOGL):c.3605G>A (p.Cys1202Tyr) rs876657948
NM_001378609.3(OTOGL):c.3935A>C (p.His1312Pro) rs768575822
NM_001378609.3(OTOGL):c.4279+3_4279+6del rs1592713988
NM_001378609.3(OTOGL):c.6748G>C (p.Val2250Leu) rs77741668
NM_001378609.3(OTOGL):c.6922G>A (p.Glu2308Lys) rs1891257108
NM_173591.3(OTOGL):c.[6220A>G;6221T>C]

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