ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss 10

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.*1264T>A rs9483585 0.99999
NM_004100.5(EYA4):c.*1434A>G rs9483586 0.79868
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_004100.5(EYA4):c.*23C>T rs3734279 0.35809
NM_004100.5(EYA4):c.*2108A>G rs17053541 0.24433
NM_004100.5(EYA4):c.*2184A>T rs17053542 0.20492
NM_004100.5(EYA4):c.*726C>A rs55805978 0.20466
NM_004100.5(EYA4):c.*1867C>T rs17053540 0.15248
NM_004100.5(EYA4):c.*3014T>C rs76510133 0.05509
NM_004100.5(EYA4):c.*1658C>T rs73546865 0.04226
NM_004100.5(EYA4):c.-76C>T rs78081370 0.04026
NM_004100.5(EYA4):c.*2302G>A rs41286208 0.02535
NM_004100.5(EYA4):c.*2685T>A rs41286210 0.01638
NM_004100.5(EYA4):c.*2799C>A rs143596676 0.00882
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_004100.5(EYA4):c.*1484C>T rs116238383 0.00723
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_004100.5(EYA4):c.-445C>T rs112196731 0.00488
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_004100.5(EYA4):c.*2044A>G rs59167148 0.00365
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004100.5(EYA4):c.-356T>C rs375432060 0.00104
NM_004100.5(EYA4):c.*2588C>T rs140401218 0.00078
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004100.5(EYA4):c.*1744G>A rs542230437 0.00064
NM_004100.5(EYA4):c.*1905T>A rs542036379 0.00060
NM_004100.5(EYA4):c.*1770T>C rs765287346 0.00052
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_004100.5(EYA4):c.*3211T>G rs140619740 0.00043
NM_004100.5(EYA4):c.*2269C>T rs533609774 0.00041
NM_004100.5(EYA4):c.*2511G>A rs560590444 0.00035
NM_004100.5(EYA4):c.*3226A>C rs73546871 0.00035
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004100.5(EYA4):c.*333G>A rs746964933 0.00025
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004100.5(EYA4):c.*2377C>T rs1205497819 0.00020
NM_004100.5(EYA4):c.*1350G>A rs553570769 0.00018
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004100.5(EYA4):c.*2759G>A rs886061098 0.00014
NM_004100.5(EYA4):c.*308G>T rs999799440 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004100.5(EYA4):c.*379C>A rs1025660001 0.00013
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_004100.5(EYA4):c.*1600G>A rs998755605 0.00011
NM_004100.5(EYA4):c.*2188T>A rs376366555 0.00011
NM_004100.5(EYA4):c.-124C>T rs886061088 0.00010
NM_004100.5(EYA4):c.*3121A>G rs755881972 0.00008
NM_004100.5(EYA4):c.*1363G>A rs539858245 0.00007
NM_004100.5(EYA4):c.*15C>T rs773904240 0.00007
NM_004100.5(EYA4):c.*222G>A rs998303327 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.*1812G>T rs555600336 0.00006
NM_004100.5(EYA4):c.*633G>A rs996978211 0.00006
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) rs200309400 0.00006
NM_004100.5(EYA4):c.*732A>G rs902919934 0.00005
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004100.5(EYA4):c.*2049T>C rs752513150 0.00004
NM_004100.5(EYA4):c.*2359C>T rs547907467 0.00004
NM_004100.5(EYA4):c.*2360G>A rs886061094 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004100.5(EYA4):c.*3267C>A rs886061099 0.00003
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) rs762144530 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.970+5A>G rs886061089 0.00003
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004100.5(EYA4):c.*1440C>A rs1251468796 0.00001
NM_004100.5(EYA4):c.*1551G>T rs895041455 0.00001
NM_004100.5(EYA4):c.*1820A>T rs184735364 0.00001
NM_004100.5(EYA4):c.*1943C>T rs150567885 0.00001
NM_004100.5(EYA4):c.*2660T>C rs886061096 0.00001
NM_004100.5(EYA4):c.-256C>T rs886061086 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1739-1G>A rs797045088 0.00001
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) rs1173508611 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004100.5(EYA4):c.*1346C>T rs772550313
NM_004100.5(EYA4):c.*1513T>C rs886061092
NM_004100.5(EYA4):c.*1532G>A rs776008831
NM_004100.5(EYA4):c.*2010A>G rs886061093
NM_004100.5(EYA4):c.*2439G>A rs1298238435
NM_004100.5(EYA4):c.*265G>A rs983068379
NM_004100.5(EYA4):c.*2750C>A rs886061097
NM_004100.5(EYA4):c.*2968T>A rs181492427
NM_004100.5(EYA4):c.*3132C>T rs1801031145
NM_004100.5(EYA4):c.*3160C>T rs1801032975
NM_004100.5(EYA4):c.*347T>C rs1434297565
NM_004100.5(EYA4):c.*566G>T rs1800870215
NM_004100.5(EYA4):c.*756A>G rs1800887681
NM_004100.5(EYA4):c.-244C>G rs112173873
NM_004100.5(EYA4):c.-326C>G rs117602794
NM_004100.5(EYA4):c.-408G>T rs886061085
NM_004100.5(EYA4):c.-430T>C rs886061084
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs) rs2128707546
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs) rs2128707619
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg) rs1796360086
NM_004100.5(EYA4):c.1282-12T>A rs2128781753
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) rs1562505728
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) rs1321644184
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) rs1305000119
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala) rs1793929707
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) rs1794473050
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.804+2T>A rs2128665071
NM_004100.5(EYA4):c.804+2del rs2128665075
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) rs2128674939
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.992dup (p.Ser331fs)

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