ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 31 by Illumina Laboratory Services, Illumina

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) rs150407952 0.00177
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) rs149558159 0.00098
NM_015404.4(WHRN):c.-583C>T rs755158483 0.00090
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) rs142568702 0.00084
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) rs56059137 0.00083
NM_015404.4(WHRN):c.-305C>T rs537786676 0.00079
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) rs55966714 0.00062
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00055
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) rs147500559 0.00053
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_015404.4(WHRN):c.-483G>A rs886063374 0.00039
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) rs201105262 0.00039
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) rs143443833 0.00035
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_015404.4(WHRN):c.-595G>A rs1030140507 0.00024
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) rs139337135 0.00024
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) rs144878400 0.00022
NM_015404.4(WHRN):c.*187A>G rs779279060 0.00019
NM_015404.4(WHRN):c.*188A>T rs549537695 0.00019
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) rs201555289 0.00019
NM_015404.4(WHRN):c.-570C>G rs886073834 0.00015
NM_015404.4(WHRN):c.-581C>T rs886063377 0.00015
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) rs781583583 0.00009
NM_015404.4(WHRN):c.-505C>T rs987306942 0.00007
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) rs200377723 0.00007
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) rs760471578 0.00007
NM_015404.4(WHRN):c.*339C>A rs774074739 0.00006
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) rs369521178 0.00006
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) rs45530335 0.00006
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) rs750834235 0.00006
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) rs200354989 0.00006
NM_015404.4(WHRN):c.695A>C (p.His232Pro) rs533374297 0.00006
NM_015404.4(WHRN):c.*583C>T rs567156879 0.00005
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) rs141168514 0.00005
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) rs768008029 0.00004
NM_015404.4(WHRN):c.1626+8T>G rs547616329 0.00004
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) rs780855079 0.00004
NM_015404.4(WHRN):c.*149A>G rs563858014 0.00003
NM_015404.4(WHRN):c.-23C>G rs770413185 0.00003
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) rs763451514 0.00003
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) rs768714315 0.00003
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) rs143464875 0.00003
NM_015404.4(WHRN):c.762C>T (p.His254=) rs201171374 0.00003
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) rs758129253 0.00002
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) rs556585167 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015404.4(WHRN):c.324A>G (p.Gln108=) rs763014940 0.00002
NM_015404.4(WHRN):c.549G>A (p.Arg183=) rs147477922 0.00002
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_015404.4(WHRN):c.*554C>T rs886063367 0.00001
NM_015404.4(WHRN):c.*613A>G rs1042938459 0.00001
NM_015404.4(WHRN):c.-92C>T rs1289815111 0.00001
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) rs759109990 0.00001
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) rs886063372 0.00001
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) rs373389359 0.00001
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) rs886063371 0.00001
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) rs750597763 0.00001
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) rs201690920 0.00001
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) rs751846994 0.00001
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) rs886063370 0.00001
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) rs545286422 0.00001
NM_015404.4(WHRN):c.2419-5C>T rs767910166 0.00001
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) rs569112844 0.00001
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) rs140344596 0.00001
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) rs138731082 0.00001
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) rs377363590 0.00001
NM_015404.4(WHRN):c.690C>T (p.Thr230=) rs779112096 0.00001
NM_015404.4(WHRN):c.837+5G>C rs201863779 0.00001
NM_015404.4(WHRN):c.*126C>A rs1834758281
NM_015404.4(WHRN):c.*156G>A rs567661962
NM_015404.4(WHRN):c.*175C>T rs1834755674
NM_015404.4(WHRN):c.*29T>G rs760640463
NM_015404.4(WHRN):c.*357C>G rs886063368
NM_015404.4(WHRN):c.*495T>C rs954067626
NM_015404.4(WHRN):c.*633T>C rs886063366
NM_015404.4(WHRN):c.-269C>A rs551952938
NM_015404.4(WHRN):c.-310G>T rs1844288269
NM_015404.4(WHRN):c.-499G>A rs886063375
NM_015404.4(WHRN):c.-517C>T rs886063376
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) rs886063373
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) rs748769354
NM_015404.4(WHRN):c.1627-7T>G rs1835163569
NM_015404.4(WHRN):c.1929G>A (p.Gln643=) rs1835054839
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) rs781674400
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) rs376805417
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) rs751455932
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) rs572312301
NM_015404.4(WHRN):c.680G>T (p.Gly227Val) rs908185393
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) rs143165834

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