ClinVar Miner

List of variants in gene OTOG studied for Autosomal recessive nonsyndromic hearing loss 18B

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.4087G>C (p.Ala1363Pro) rs7934079 0.76845
NM_001292063.2(OTOG):c.2038T>C (p.Ser680Pro) rs7106548 0.47894
NM_001292063.2(OTOG):c.1955+24C>T rs10832802 0.38692
NM_001292063.2(OTOG):c.2340G>A (p.Pro780=) rs4757548 0.37391
NM_001292063.2(OTOG):c.2561+14G>A rs4756902 0.37182
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) rs10832824 0.35674
NM_001292063.2(OTOG):c.8364G>C (p.Leu2788=) rs2023483 0.35618
NM_001292063.2(OTOG):c.2561+10G>A rs4756901 0.33002
NM_001292063.2(OTOG):c.2719G>A (p.Ala907Thr) rs2355466 0.32233
NM_001292063.2(OTOG):c.8690G>C (p.Trp2897Ser) rs11024357 0.19620
NM_001292063.2(OTOG):c.385+7C>T rs139222878 0.00540
NM_001292063.2(OTOG):c.4238G>A (p.Arg1413Gln) rs143848095 0.00260
NM_001292063.2(OTOG):c.899A>G (p.His300Arg) rs189159426 0.00243
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro) rs61744602 0.00187
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_001292063.2(OTOG):c.8125G>A (p.Asp2709Asn) rs189910531 0.00084
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_001292063.2(OTOG):c.385G>A (p.Val129Met) rs552304627 0.00081
NM_001292063.2(OTOG):c.6827C>T (p.Thr2276Ile) rs569603083 0.00078
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_001292063.2(OTOG):c.516C>T (p.Pro172=) rs149868055 0.00055
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser) rs147052893 0.00054
NM_001292063.2(OTOG):c.335C>G (p.Ala112Gly) rs545257884 0.00048
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_001292063.2(OTOG):c.5966C>G (p.Ala1989Gly) rs577901245 0.00038
NM_001292063.2(OTOG):c.4002C>T (p.Phe1334=) rs545896255 0.00032
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe) rs557079751 0.00032
NM_001292063.2(OTOG):c.7380T>A (p.Asp2460Glu) rs532385451 0.00026
NM_001292063.2(OTOG):c.7658G>C (p.Arg2553Pro) rs563003848 0.00026
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp) rs201183725 0.00025
NM_001292063.2(OTOG):c.292+4A>C rs535970426 0.00021
NM_001292063.2(OTOG):c.1184A>C (p.Gln395Pro) rs876657936 0.00019
NM_001292063.2(OTOG):c.6181G>A (p.Val2061Met) rs748497956 0.00018
NM_001292063.2(OTOG):c.8345C>T (p.Thr2782Met) rs188322721 0.00013
NM_001292063.2(OTOG):c.3178C>T (p.His1060Tyr) rs187751015 0.00011
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys) rs184461956 0.00011
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_001292063.2(OTOG):c.5185G>A (p.Gly1729Arg) rs368666159 0.00006
NM_001292063.2(OTOG):c.3521C>T (p.Pro1174Leu) rs775584403 0.00005
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) rs755149839 0.00005
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn) rs534951317 0.00005
NM_001292063.2(OTOG):c.8119G>A (p.Val2707Met) rs566656846 0.00005
NM_001292063.2(OTOG):c.2080G>A (p.Ala694Thr) rs757854202 0.00004
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter) rs772430523 0.00004
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr) rs553079779 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.7417C>T (p.Arg2473Ter) rs866476223 0.00002
NM_001292063.2(OTOG):c.8520T>A (p.Asn2840Lys) rs754033112 0.00002
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys) rs1007369140 0.00001
NM_001292063.2(OTOG):c.294C>G (p.Tyr98Ter) rs574007567 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr) rs894980888 0.00001
NM_001292063.2(OTOG):c.6334G>A (p.Asp2112Asn) rs1314382019 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr) rs1017790030 0.00001
NM_001292063.2(OTOG):c.7722C>T (p.Pro2574=) rs1260956852 0.00001
NC_000011.10:g.17634839_17634845dup rs1295062471
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs) rs2134009776
NM_001292063.2(OTOG):c.1592G>A (p.Ser531Asn)
NM_001292063.2(OTOG):c.2084C>T (p.Ser695Phe) rs1430140899
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.2453_2454insACTGGACACCCA (p.Tyr818Ter) rs876657656
NM_001292063.2(OTOG):c.2523T>A (p.Tyr841Ter)
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe) rs1852532958
NM_001292063.2(OTOG):c.2561+1del rs1852533572
NM_001292063.2(OTOG):c.2695C>T (p.Gln899Ter)
NM_001292063.2(OTOG):c.2885C>A (p.Ser962Ter)
NM_001292063.2(OTOG):c.3187C>T (p.Arg1063Ter)
NM_001292063.2(OTOG):c.3289G>A (p.Gly1097Ser)
NM_001292063.2(OTOG):c.3546C>A (p.Tyr1182Ter)
NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter) rs1851981434
NM_001292063.2(OTOG):c.4130G>A (p.Arg1377His)
NM_001292063.2(OTOG):c.4132C>T (p.Arg1378Trp) rs561534995
NM_001292063.2(OTOG):c.4261C>T (p.Arg1421Trp)
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter) rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs) rs2134088808
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu) rs897939885
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001292063.2(OTOG):c.5281_5284dup (p.Ser1762Ter) rs2134090994
NM_001292063.2(OTOG):c.5438T>G (p.Val1813Gly) rs1853512469
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001292063.2(OTOG):c.5935del (p.Met1979fs)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs) rs1416960576
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) rs188527711
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg) rs770170338
NM_001292063.2(OTOG):c.6284_6287dup (p.Cys2096Ter)
NM_001292063.2(OTOG):c.6293-3C>T
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) rs397514607
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
NM_001292063.2(OTOG):c.6453G>A (p.Trp2151Ter)
NM_001292063.2(OTOG):c.6469del (p.Leu2156_Val2157insTer)
NM_001292063.2(OTOG):c.7048G>T (p.Glu2350Ter)
NM_001292063.2(OTOG):c.7062dup (p.Asp2355Ter)
NM_001292063.2(OTOG):c.7353dup (p.Ala2452fs) rs1157646266
NM_001292063.2(OTOG):c.7480+6T>C rs1854206287
NM_001292063.2(OTOG):c.7686C>G (p.Tyr2562Ter)
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
NM_001292063.2(OTOG):c.7860G>A (p.Trp2620Ter) rs1565129771
NM_001292063.2(OTOG):c.7866del (p.Asp2623fs)
NM_001292063.2(OTOG):c.8567G>A (p.Arg2856Lys)
NM_001292063.2(OTOG):c.8614C>T (p.Arg2872Ter)
NM_001292063.2(OTOG):c.8632C>T (p.Arg2878Cys)
NM_001292063.2(OTOG):c.880del (p.Asp294fs)
NM_001292063.2(OTOG):c.996G>T (p.Gln332His) rs1294149176

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