ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 37

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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_004999.4(MYO6):c.-225G>C rs886061759 0.00715
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.*1324A>G rs191987417 0.00357
NM_004999.4(MYO6):c.*2716A>G rs188568413 0.00357
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.*1287T>A rs570884031 0.00292
NM_004999.4(MYO6):c.*1627A>G rs147347025 0.00273
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_004999.4(MYO6):c.*3914T>C rs541767003 0.00228
NM_004999.4(MYO6):c.*301G>A rs116215208 0.00173
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_004999.4(MYO6):c.*2759C>A rs142353235 0.00140
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_004999.4(MYO6):c.*3879G>A rs189646143 0.00105
NM_004999.4(MYO6):c.*1785A>C rs139803503 0.00090
NM_004999.4(MYO6):c.*3846G>A rs538108588 0.00088
NM_004999.4(MYO6):c.*4287C>T rs73751759 0.00085
NM_004999.4(MYO6):c.*1522C>T rs149257535 0.00071
NM_004999.4(MYO6):c.*3829T>C rs62414825 0.00068
NM_004999.4(MYO6):c.*4032G>A rs373146837 0.00068
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_004999.4(MYO6):c.*511G>A rs753019749 0.00045
NM_004999.4(MYO6):c.*1847A>G rs886061770 0.00043
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_004999.4(MYO6):c.*263T>C rs552963186 0.00032
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_004999.4(MYO6):c.*1925A>G rs912042329 0.00029
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_004999.4(MYO6):c.*4446A>G rs148227849 0.00029
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.*1884A>C rs562636905 0.00025
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_004999.4(MYO6):c.*2996A>G rs536099586 0.00021
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_004999.4(MYO6):c.*3660C>T rs774736565 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_004999.4(MYO6):c.*3834G>A rs886061779 0.00018
NM_004999.4(MYO6):c.*2346A>G rs745897280 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_004999.4(MYO6):c.*4030G>A rs746829763 0.00014
NM_004999.4(MYO6):c.26C>T (p.Ala9Val) rs199508553 0.00014
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_004999.4(MYO6):c.*3890G>A rs574818180 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_004999.4(MYO6):c.*4506T>C rs766637637 0.00009
NM_004999.4(MYO6):c.*311T>C rs886061765 0.00008
NM_004999.4(MYO6):c.*1335G>A rs942079896 0.00007
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.966G>A (p.Thr322=) rs375754710 0.00005
NM_004999.4(MYO6):c.*1181G>A rs769731324 0.00004
NM_004999.4(MYO6):c.*1284T>G rs546877472 0.00004
NM_004999.4(MYO6):c.*2146A>C rs1005102784 0.00004
NM_004999.4(MYO6):c.*305T>C rs1050868572 0.00004
NM_004999.4(MYO6):c.*362A>G rs886061766 0.00004
NM_004999.4(MYO6):c.*692C>A rs1054285205 0.00004
NM_004999.4(MYO6):c.*860G>T rs570922846 0.00004
NM_004999.4(MYO6):c.1029C>T (p.Gly343=) rs752948085 0.00004
NM_004999.4(MYO6):c.2946+10T>C rs371745279 0.00004
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln) rs374966499 0.00004
NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn) rs773042864 0.00004
NM_004999.4(MYO6):c.*3029A>G rs886061775 0.00003
NM_004999.4(MYO6):c.*3973A>G rs886061780 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.406C>A (p.Arg136=) rs758630450 0.00003
NM_004999.4(MYO6):c.*2688A>G rs982469853 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_004999.4(MYO6):c.2309T>C (p.Met770Thr) rs202216621 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_004999.4(MYO6):c.*1030T>C rs886061767 0.00001
NM_004999.4(MYO6):c.*2410T>C rs1475834409 0.00001
NM_004999.4(MYO6):c.*2572A>C rs1338857560 0.00001
NM_004999.4(MYO6):c.*3032C>T rs1028807508 0.00001
NM_004999.4(MYO6):c.*3064A>G rs1455253489 0.00001
NM_004999.4(MYO6):c.*3364A>G rs1457788079 0.00001
NM_004999.4(MYO6):c.*34T>G rs1562323292 0.00001
NM_004999.4(MYO6):c.*3524A>G rs886061778 0.00001
NM_004999.4(MYO6):c.*3549C>T rs1414053280 0.00001
NM_004999.4(MYO6):c.*3926T>C rs1296097210 0.00001
NM_004999.4(MYO6):c.*4196T>C rs1168354848 0.00001
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) rs377470568 0.00001
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln) rs752489259 0.00001
NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) rs1344197751 0.00001
NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) rs1409939234 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) rs779535270 0.00001
NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) rs751775864 0.00001
NM_004999.4(MYO6):c.438T>C (p.Ser146=) rs1773255262 0.00001
NM_004999.4(MYO6):c.564C>T (p.Leu188=) rs750374337 0.00001
NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr) rs777614964 0.00001
NM_004999.4(MYO6):c.908C>T (p.Ala303Val) rs776690609 0.00001
NM_004999.4(MYO6):c.*1011T>A rs1781098790
NM_004999.4(MYO6):c.*148T>C rs886061764
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*2276A>G rs1464248220
NM_004999.4(MYO6):c.*2497A>G rs886061772
NM_004999.4(MYO6):c.*2838T>G rs1781202815
NM_004999.4(MYO6):c.*2873T>C rs1781205454
NM_004999.4(MYO6):c.*2976C>T rs1781211562
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*3297G>C rs888964790
NM_004999.4(MYO6):c.*3475G>A rs771776668
NM_004999.4(MYO6):c.*3824A>C rs1781270510
NM_004999.4(MYO6):c.*401A>G rs200014336
NM_004999.4(MYO6):c.*4056G>A rs182280217
NM_004999.4(MYO6):c.*429T>C rs1781071721
NM_004999.4(MYO6):c.*650G>C rs191856462
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_004999.4(MYO6):c.-185G>T rs566419666
NM_004999.4(MYO6):c.-19C>A rs746580223
NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu) rs886061761
NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn) rs1776713738
NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile) rs771235729
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu) rs1777294344
NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu) rs886061762
NM_004999.4(MYO6):c.2375G>A (p.Arg792His) rs781458857
NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) rs1778410002
NM_004999.4(MYO6):c.2787T>G (p.Ile929Met) rs886061763
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3439+13G>T rs1362707127
NM_004999.4(MYO6):c.3658+5G>A
NM_004999.4(MYO6):c.439A>G (p.Ile147Val)
NM_004999.4(MYO6):c.605A>G (p.Asn202Ser) rs886061760
NM_004999.4(MYO6):c.798T>G (p.Ser266Arg) rs1398124041

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