ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu) rs143240262 0.00376
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met) rs199754104 0.00014
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu) rs564555435 0.00011
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met) rs370912192 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) rs111033509 0.00008
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met) rs369776863 0.00008
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu) rs374964318 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022124.6(CDH23):c.1699G>A (p.Val567Met) rs377148854 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.4625G>A (p.Gly1542Asp) rs781339262 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp) rs201579860 0.00006
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn) rs202147495 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys) rs771858198 0.00005
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg) rs41281306 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2804G>A (p.Arg935His) rs748194042 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr) rs548937425 0.00004
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys) rs755800639 0.00004
NM_022124.6(CDH23):c.7942G>A (p.Val2648Met) rs749501038 0.00004
NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln) rs763303827 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022124.6(CDH23):c.227G>A (p.Arg76His) rs373802615 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile) rs763947401 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr) rs780514498 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln) rs1295355040 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr) rs185819621 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp) rs770510708 0.00001
NM_022124.6(CDH23):c.1339A>G (p.Lys447Glu) rs767345324 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1874G>A (p.Arg625His) rs200907423 0.00001
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala) rs764332602 0.00001
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile) rs755812129 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala) rs759990271 0.00001
NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val) rs1299758893 0.00001
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr) rs1198525214 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr) rs753997469 0.00001
NC_000010.11:g.71806223_71806224delinsTT rs876657422
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1270G>A (p.Val424Met) rs2305207
NM_022124.6(CDH23):c.1417G>A (p.Val473Ile) rs771847607
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met) rs183220886
NM_022124.6(CDH23):c.2842G>T (p.Val948Phe) rs2132740122
NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys) rs765094120
NM_022124.6(CDH23):c.2864G>A (p.Arg955His) rs758293939
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg) rs371962929
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT rs1589384283
NM_022124.6(CDH23):c.4617+5G>C rs772189237
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys) rs759876454
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile) rs2132965400
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser) rs373294595
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His) rs534575559
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973

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