ClinVar Miner

List of variants studied for auditory system disorder by OMIM

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 510
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HGVS dbSNP gnomAD frequency
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952 0.02416
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495 0.00748
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042 0.00570
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077 0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_033284.2(TBL1Y):c.206A>T (p.Asp69Val) rs199659121 0.00058
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_001080476.3(GRXCR1):c.627+19A>T rs201824235 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His) rs548137246 0.00017
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met) rs34675173 0.00011
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met) rs104893976 0.00010
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_001145026.2(PTPRQ):c.715A>G (p.Arg239Gly) rs281865414 0.00006
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) rs61753849 0.00006
NM_005548.3(KARS1):c.1045G>A (p.Asp349Asn) rs397514746 0.00006
NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs) rs763343580 0.00006
NM_024063.3(AFG2B):c.606_619dup (p.Glu207fs) rs765912979 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001191057.4(PDE1C):c.778G>T (p.Ala260Ser) rs775633137 0.00004
NM_001393500.2(TOMT):c.229G>A (p.Glu77Lys) rs137853187 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) rs587777133 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001080476.3(GRXCR1):c.628-9C>A rs606231120 0.00003
NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) rs371100799 0.00003
NM_001256317.3(TMPRSS3):c.647G>T (p.Arg216Leu) rs137853000 0.00003
NM_001304438.2(TMEM132E):c.1529G>A (p.Arg510Gln) rs139895222 0.00003
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys) rs200157211 0.00003
NM_001378457.1(DMXL2):c.7250G>A (p.Arg2417His) rs754786373 0.00003
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_003672.4(CDC14A):c.376del (p.Tyr126fs) rs759201338 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_004086.3(COCH):c.292C>T (p.Arg98Ter) rs756790858 0.00003
NM_004526.4(MCM2):c.130C>T (p.Arg44Cys) rs375851208 0.00003
NM_005548.3(KARS1):c.433T>C (p.Tyr145His) rs397514745 0.00003
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser) rs397515411 0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341 0.00003
NM_012478.4(WBP2):c.478G>A (p.Ala160Thr) rs202022024 0.00003
NM_016239.4(MYO15A):c.3756+1G>T rs748108031 0.00003
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_033641.4(COL4A6):c.1768G>A (p.Gly590Ser) rs779748859 0.00003
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) rs104893975 0.00003
NM_001031679.3(MSRB3):c.55C>T (p.Arg19Ter) rs149258390 0.00002
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029 0.00002
NM_001393500.2(TOMT):c.259+4A>C rs545947177 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_133261.3(GIPC3):c.136G>A (p.Gly46Arg) rs946085339 0.00002
NM_138691.3(TMC1):c.1960A>G (p.Met654Val) rs121908074 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_000260.4(MYO7A):c.133-2A>G rs782064437 0.00001
NM_001031679.3(MSRB3):c.244T>G (p.Cys82Gly) rs387907088 0.00001
NM_001038603.3(MARVELD2):c.1183-1G>A rs200781822 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072 0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634 0.00001
NM_001080476.3(GRXCR1):c.412C>T (p.Arg138Cys) rs267606856 0.00001
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met) rs104894414 0.00001
NM_001128228.3(TPRN):c.1239G>A (p.Trp413Ter) rs267607135 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu) rs483352866 0.00001
NM_001256317.3(TMPRSS3):c.1208C>T (p.Pro403Leu) rs28939084 0.00001
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001304438.2(TMEM132E):c.2474C>T (p.Pro825Leu) rs370232097 0.00001
NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser) rs766225189 0.00001
NM_001378609.3(OTOGL):c.5265+5G>A rs902734999 0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp) rs267606932 0.00001
NM_001384474.1(LOXHD1):c.2008C>T (p.Arg670Ter) rs121918370 0.00001
NM_001393500.2(TOMT):c.143G>A (p.Arg48Gln) rs137853185 0.00001
NM_002906.4(RDX):c.698+1G>A rs1191259480 0.00001
NM_003672.4(CDC14A):c.1015C>T (p.Arg339Ter) rs777112652 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004086.3(COCH):c.1535T>C (p.Met512Thr) rs121908934 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_004996.4(ABCC1):c.1769A>G (p.Asn590Ser) rs199797323 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) rs121912558 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) rs121909306 0.00001
NM_005909.5(MAP1B):c.4198A>G (p.Ser1400Gly) rs753026898 0.00001
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp) rs200656442 0.00001
NM_144991.3(TSPEAR):c.1728del (p.Lys577fs) rs782540538 0.00001
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys) rs28942096 0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp) rs28941781 0.00001
NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter) rs119477055 0.00001
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586 0.00001
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser) rs397515435 0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349 0.00001
NC_000013.11:g.60163939G>A rs2138511749
NC_000015.10:g.(?_43599438)_(43608225_43613711)del
NC_000016.8:g.(21419562_?)_(?_21746863)del
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.7445A>G rs199474818
NC_012920.1:m.7471dup rs111033319
NC_012920.1:m.7505T>C rs724159989
NC_012920.1:m.827A>G rs28358569
NG_011593.1:g.55397_56585delins59701_59837invGCCCA
NM_000245.4(MET):c.2521T>G (p.Phe841Val) rs794728016
NM_000260.4(MYO7A):c.1184G>A (p.Arg395His) rs387906700
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) rs121965084
NM_000260.4(MYO7A):c.1797G>A (p.Met599Ile) rs121965082
NM_000260.4(MYO7A):c.2011G>A (p.Gly671Ser) rs387906699
NM_000260.4(MYO7A):c.2662_2670del (p.Lys888_Lys890del) rs2135478294
NM_000260.4(MYO7A):c.3596dup (p.Cys1201fs) rs2135550200
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) rs1555102843
NM_000260.4(MYO7A):c.731G>C (p.Arg244Pro) rs121965081
NM_000307.5(POU3F4):c.1000A>G (p.Lys334Glu) rs104894922
NM_000307.5(POU3F4):c.1060del (p.Thr354fs) rs398122517
NM_000307.5(POU3F4):c.604A>T (p.Lys202Ter) rs104894920
NM_000307.5(POU3F4):c.648del (p.Leu217fs) rs1555984570
NM_000307.5(POU3F4):c.862_865del (p.Val289fs) rs730882189
NM_000307.5(POU3F4):c.896del (p.Lys299fs) rs267606974
NM_000307.5(POU3F4):c.935C>T (p.Ala312Val) rs387906502
NM_000307.5(POU3F4):c.950T>G (p.Leu317Trp) rs104894921
NM_000307.5(POU3F4):c.950dup (p.Leu317fs) rs398122516
NM_000307.5(POU3F4):c.967C>G (p.Arg323Gly) rs104894924
NM_000307.5(POU3F4):c.990A>T (p.Arg330Ser) rs104894923
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000601.6(HGF):c.482+1986_482+1988del rs1788701297
NM_000601.6(HGF):c.482+1991_482+2000del
NM_000601.6(HGF):c.495G>A (p.Ser165=) rs137853235
NM_000899.5(KITLG):c.200_202del (p.His67_Cys68delinsArg) rs864309654
NM_000899.5(KITLG):c.286_303delinsT (p.Leu95_Ser96insTer) rs864309653
NM_001001331.4(ATP2B2):c.1963G>T (p.Glu655Ter) rs267599520
NM_001001331.4(ATP2B2):c.1998C>A (p.Cys666Ter) rs752990722
NM_001001331.4(ATP2B2):c.2329C>T (p.Arg777Ter) rs2060537889
NM_001001331.4(ATP2B2):c.955del (p.Ala319fs) rs2124844270
NM_001004051.4(GPRASP2):c.1717_1718delinsAA (p.Ala573Asn) rs1569491884
NM_001037582.3(SCD5):c.626G>C (p.Trp209Ser) rs192654796
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.1331+4_1331+7del
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) rs768625959
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028
NM_001039213.4(CEACAM16):c.37G>T (p.Ala13Ser) rs1198256157
NM_001039213.4(CEACAM16):c.418A>C (p.Thr140Pro) rs387907149
NM_001039213.4(CEACAM16):c.505G>A (p.Gly169Arg) rs876661405
NM_001039213.4(CEACAM16):c.662-1G>C rs1568528171
NM_001042517.1(DIAPH3):c.-172G>A rs2138511736
NM_001042702.5(PJVK):c.113dup (p.Lys41fs) rs1559365985
NM_001042702.5(PJVK):c.122del (p.Lys41fs) rs1559366000
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) rs118203988
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.988del (p.Val330fs) rs1559372640
NM_001046.3(SLC12A2):c.2930-2A>G rs1581138932
NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) rs1581138934
NM_001046.3(SLC12A2):c.2938G>A (p.Glu980Lys) rs1763563407
NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) rs1581138944
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) rs1581138965
NM_001079827.2(CLRN2):c.494C>A (p.Thr165Lys) rs1711990645
NM_001080476.3(GRXCR1):c.229C>T (p.Gln77Ter) rs267606855
NM_001080516.2(GRXCR2):c.714dup (p.Gly239fs) rs587777424
NM_001124758.2(SPNS2):c.c.1066_1067delinsT (p.Pro356Cysfs) rs1555537637
NM_001124758.3(SPNS2):c.952TCC[1] (p.Ser319del) rs749994718
NM_001127453.2(GSDME):c.1102C>G (p.Gln368Glu) rs2128047712
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001128228.3(TPRN):c.1427del (p.Pro476fs) rs387906219
NM_001128228.3(TPRN):c.1530del (p.Thr511fs) rs387906222
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001128228.3(TPRN):c.227_237dup (p.Leu80fs) rs387906220
NM_001135022.2(ELMOD3):c.794T>C (p.Leu265Ser) rs587777040
NM_001142966.3(GREB1L):c.347C>T (p.Thr116Ile) rs1333304296
NM_001142966.3(GREB1L):c.4368G>T (p.Gln1456His) rs1555661490
NM_001142966.3(GREB1L):c.848A>G (p.Asn283Ser) rs2033773650
NM_001142966.3(GREB1L):c.982C>T (p.Arg328Ter) rs1555648043
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145026.2(PTPRQ):c.837T>A (p.Tyr279Ter) rs183258549
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.383T>C (p.Phe128Ser) rs1577876794
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg) rs1577888561
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) rs1577888985
NM_001145809.2(MYH14):c.20C>A (p.Ser7Ter) rs119103279
NM_001145809.2(MYH14):c.2299C>A (p.Arg767Ser) rs28940307
NM_001145809.2(MYH14):c.3049C>T (p.Leu1017Phe) rs28940306
NM_001145809.2(MYH14):c.359C>T (p.Ser120Leu) rs119103281
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001146079.2(CLDN14):c.398del (p.Met133fs) rs786200885
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001195263.2(PDZD7):c.1207del (p.His403fs) rs1554835103
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) rs1554834186
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) rs1554834161
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) rs587776894
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr) rs587777147
NM_001199107.2(TBC1D24):c.878G>C (p.Arg293Pro) rs199700840
NM_001199799.2(ILDR1):c.1032del (p.Thr345fs) rs1226171550
NM_001199799.2(ILDR1):c.1135G>T (p.Glu379Ter) rs387907015
NM_001199799.2(ILDR1):c.3G>A (p.Met1Ile) rs387907016
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001243133.2(NLRP3):c.2753G>A (p.Arg918Gln) rs1553293095
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.308A>G (p.Asp103Gly) rs387906915
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)
NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn)
NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs)
NM_001286445.3(RIPOR2):c.1633_1644del (p.Gln545_Lys548del) rs760676508
NM_001286445.3(RIPOR2):c.189-1G>A rs875989828
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) rs397514607
NM_001369623.2(PI4KB):c.1346T>G (p.Val449Gly)
NM_001369623.2(PI4KB):c.2044G>A (p.Glu682Lys)
NM_001369623.2(PI4KB):c.2261T>G (p.Met754Arg)
NM_001369623.2(PI4KB):c.362A>G (p.Gln121Arg)
NM_001371333.1(DIABLO):c.377C>T (p.Ser126Leu) rs387906893
NM_001376256.1(CRYM):c.941A>C (p.Lys314Thr) rs104894512
NM_001376256.1(CRYM):c.945A>T (p.Ter315Tyr) rs104894509
NM_001378457.1(DMXL2):c.918G>T (p.Gln306His) rs2140933776
NM_001379180.1(ESRRB):c.1081_1087dup (p.Val363fs)
NM_001379180.1(ESRRB):c.1087G>T (p.Val363Leu) rs121909111
NM_001379180.1(ESRRB):c.392C>T (p.Ala131Val) rs121909110
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly) rs137853003
NM_001384140.1(PCDH15):c.785G>A (p.Gly262Asp) rs137853002
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001393500.2(TOMT):c.214T>C (p.Trp72Arg) rs137853186
NM_001393500.2(TOMT):c.234C>G (p.Tyr78Ter) rs137853188
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) rs104894547
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) rs28999111
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.494A>T (p.His165Leu) rs2102282139
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.652-2A>C rs747787770
NM_002039.4(GAB1):c.347G>A (p.Gly116Glu) rs1553950635
NM_002160.4(TNC):c.5386A>T (p.Thr1796Ser) rs431905513
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002473.6(MYH9):c.2114G>A (p.Arg705His) rs80338828
NM_002700.3(POU4F3):c.662_675del (p.Gly221fs) rs1064792854
NM_002700.3(POU4F3):c.668T>C (p.Leu223Pro) rs121909057
NM_002700.3(POU4F3):c.865C>T (p.Leu289Phe) rs121909056
NM_002700.3(POU4F3):c.882_889del (p.Ile295fs) rs398124631
NM_002700.3(POU4F3):c.977G>A (p.Arg326Lys) rs398123070
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn) rs180177151
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr) rs180177152
NM_002764.4(PRPS1):c.337G>T (p.Ala113Ser) rs587781261
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro) rs869025593
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr) rs180177153
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg) rs180177154
NM_002906.4(RDX):c.1405dup (p.Ala469fs) rs1372141763
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn) rs121918379
NM_002906.4(RDX):c.463C>T (p.Gln155Ter) rs121918380
NM_003672.4(CDC14A):c.1033C>T (p.Arg345Ter) rs549556142
NM_003672.4(CDC14A):c.1126C>T (p.Arg376Ter) rs876661408
NM_003672.4(CDC14A):c.839-3C>G rs1553191001
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_004004.5(GJB2):c.-260C>T rs886037626
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser) rs104894413
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys) rs104894407
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.280_284dup (p.Ala96fs) rs886037625
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs) rs886037624
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn) rs28931595
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe) rs104894406
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>A (p.Cys542Tyr) rs121908932
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004086.3(COCH):c.197T>G (p.Val66Gly) rs121908927
NM_004086.3(COCH):c.263G>A (p.Gly88Glu) rs121908928
NM_004086.3(COCH):c.326T>A (p.Ile109Asn) rs121908930
NM_004086.3(COCH):c.349T>C (p.Trp117Arg) rs121908929
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
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.1282-12T>A rs2128781753
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004230.4(S1PR2):c.323G>C (p.Arg108Pro) rs869312749
NM_004230.4(S1PR2):c.419A>G (p.Tyr140Cys) rs869312750
NM_004403.3(GSDME):c.1183+4A>G rs1562687295
NM_004403.3(GSDME):c.991-6C>G rs1562687726
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter) rs587777691
NM_004568.6(SERPINB6):c.733G>T (p.Glu245Ter) rs267607037
NM_004604.5(STX4):c.232+6T>C
NM_004700.4(KCNQ4):c.211del (p.Gln71fs) rs80358272
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs) rs80358271
NM_004700.4(KCNQ4):c.821T>A (p.Leu274His) rs80358276
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys) rs28937588
NM_004700.4(KCNQ4):c.886G>A (p.Gly296Ser) rs80358279
NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro) rs864309524
NM_004839.4(HOMER2):c.807dup (p.Met270fs) rs2051382723
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) rs121912557
NM_004999.4(MYO6):c.2417-1758T>G rs1562283089
NM_004999.4(MYO6):c.36dup (p.Thr13fs) rs1562201376
NM_005012.4(ROR1):c.2207G>C (p.Arg736Thr) rs1553163562
NM_005131.3(THOC1):c.547C>G (p.Leu183Val)
NM_005172.2(ATOH1):c.1030del (p.His344fs) rs1578814396
NM_005219.5(DIAPH1):c.3624_3625del (p.Ala1210fs) rs1064797096
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005219.5(DIAPH1):c.3661+1G>T rs1476157529
NM_005250.3(FOXL1):c.976_990del (p.Gly326_Leu330del)
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) rs864309476
NM_005422.2(TECTA):c.[5458C>T;5471G>A]
NM_005422.4(TECTA):c.3169T>A (p.Cys1057Ser) rs121909059
NM_005422.4(TECTA):c.4856G>C (p.Cys1619Ser) rs121909060
NM_005422.4(TECTA):c.5331G>A (p.Leu1777=) rs1591462832
NM_005422.4(TECTA):c.5509T>C (p.Cys1837Arg) rs121909061
NM_005422.4(TECTA):c.5509T>G (p.Cys1837Gly) rs121909061
NM_005422.4(TECTA):c.5609A>G (p.Tyr1870Cys) rs121909058
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.4(TECTA):c.6062G>A (p.Arg2021His) rs121909062
NM_005612.5(REST):c.1244G>C (p.Cys415Ser) rs2109573013
NM_005612.5(REST):c.983-2247C>G rs1720770872
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_005982.4(SIX1):c.397_399del (p.Glu133del) rs80356460
NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) rs104893882
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006016.6(CD164):c.574C>T (p.Arg192Ter) rs876661402
NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) rs370965183
NM_006383.4(CIB2):c.368T>C (p.Ile123Thr) rs397515412
NM_012478.4(WBP2):c.487A>C (p.Met163Leu) rs1555604710
NM_012478.4(WBP2):c.671C>T (p.Ala224Val) rs1555604549
NM_014332.3(SMPX):c.109G>T (p.Glu37Ter) rs387906707
NM_014332.3(SMPX):c.130del (p.Glu44fs) rs398122848
NM_014332.3(SMPX):c.175G>T (p.Gly59Ter) rs387906706
NM_014332.3(SMPX):c.214G>T (p.Glu72Ter) rs387906708
NM_014332.3(SMPX):c.99del (p.Arg34fs) rs398122930
NM_015205.3(ATP11A):c.11G>A (p.Ser4Asn) rs2139425153
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_015205.3(ATP11A):c.3328-494_*1355delinsAA
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) rs137852839
NM_015404.4(WHRN):c.2423del (p.Gly808fs) rs869320674
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) rs121908971
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) rs769884586
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) rs121908968
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) rs121908972
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) rs121908966
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) rs121908967
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) rs121908969
NM_016239.4(MYO15A):c.8968-1G>C rs746051220
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) rs1567664131
NM_016356.5(DCDC2):c.1271A>C (p.Gln424Pro) rs794729665
NM_016929.5(CLIC5):c.96T>A (p.Cys32Ter) rs606231308
NM_017433.5(MYO3A):c.1777-12G>A rs1564568849
NM_017433.5(MYO3A):c.2090T>G (p.Leu697Trp) rs1564573788
NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter) rs193919333
NM_017433.5(MYO3A):c.716T>C (p.Leu239Pro)
NM_017433.5(MYO3A):c.732-2A>G rs1023746725
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs) rs1554577339
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val) rs1554577402
NM_020982.4(CLDN9):c.86del (p.Leu29fs) rs2072541692
NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter) rs587777497
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser) rs121908352
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022772.4(EPS8L2):c.1014del (p.Ser339fs) rs1554952443
NM_022772.4(EPS8L2):c.738del (p.Val247fs) rs1554952193
NM_024009.3(GJB3):c.421A>G (p.Ile141Val) rs74315320
NM_024009.3(GJB3):c.421_423del (p.Ile141del) rs770247378
NM_024022.4:c.1180_1187delinsN1234
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024915.4(GRHL2):c.1258-1G>A rs398123006
NM_024915.4(GRHL2):c.1609dup (p.Arg537fs) rs398122997
NM_025257.3(SLC44A4):c.466A>G (p.Met156Val) rs1135402753
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs) rs1569726455
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs) rs1569770998
NM_032236.8(USP48):c.1216G>A (p.Gly406Arg)
NM_032236.8(USP48):c.2215_2216delinsTT (p.Thr739Leu)
NM_032813.5(TMTC4):c.547G>A (p.Glu183Lys)
NM_032813.5(TMTC4):c.575C>T (p.Ala192Val)
NM_033109.5(PNPT1):c.1424A>G (p.Glu475Gly) rs397514599
NM_033109.5(PNPT1):c.1748dup (p.Glu584fs) rs35239216
NM_033109.5(PNPT1):c.2234T>C (p.Met745Thr) rs1425696642
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser) rs606231410
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu) rs121912948
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr) rs864309523
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_133261.3(GIPC3):c.565C>T (p.Arg189Cys) rs387907002
NM_133261.3(GIPC3):c.685dup (p.Ala229fs) rs748150647
NM_133261.3(GIPC3):c.767G>A (p.Gly256Asp) rs387907001
NM_133261.3(GIPC3):c.785T>G (p.Leu262Arg) rs387906999
NM_133261.3(GIPC3):c.903G>A (p.Trp301Ter) rs387907000
NM_138691.3(TMC1):c.1253T>A (p.Met418Lys) rs786201027
NM_138691.3(TMC1):c.1543T>C (p.Cys515Arg) rs121908076
NM_138691.3(TMC1):c.16+1G>T rs1169090943
NM_138691.3(TMC1):c.1627G>A (p.Asp543Asn)
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.1714G>C (p.Asp572His) rs121908072
NM_139319.3(SLC17A8):c.616dup (p.Met206fs) rs2135999616
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val) rs121918339
NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs) rs786205881
NM_144498.4(OSBPL2):c.156_157del (p.Gln53fs) rs786205880
NM_144672.4(OTOA):c.1320+2T>C rs1567381218
NM_147196.3(TMIE):c.122_125del (p.Pro41fs) rs876661301
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter) rs267607120
NM_147196.3(TMIE):c.94-2_98delinsC rs876657371
NM_153002.3(GPR156):c.1863dup (p.His622fs)
NM_153002.3(GPR156):c.600G>A (p.Thr200=)
NM_153676.4(USH1C):c.1019+5G>C rs1592002789
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153700.2(STRC):c.2171_2174del (p.Val724fs) rs786200883
NM_153700.2(STRC):c.3156dup (p.Cys1053fs) rs786200882
NM_170682.4(P2RX2):c.1057G>C (p.Gly353Arg) rs202138002
NM_170682.4(P2RX2):c.178G>T (p.Val60Leu) rs587777692
NM_173641.2(EPHA10):c.-81_-73delTGGGGTCTGinsAGC
NM_174916.3(UBR1):c.1440-1G>A rs1596118528
NM_174916.3(UBR1):c.2254+2T>C rs2141312913
NM_174916.3(UBR1):c.2839+5G>A rs1596106023
NM_174916.3(UBR1):c.407A>G (p.His136Arg) rs119477054
NM_177398.4(LMX1A):c.290G>C (p.Cys97Ser) rs1571177726
NM_177398.4(LMX1A):c.721G>C (p.Val241Leu) rs1571147567
NM_178335.3(CCDC50):c.1394_1401dup (p.Phe468fs) rs2108677075
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) rs779841884
NM_182548.4(LHFPL5):c.649+1del rs1581972457
NM_194248.3(OTOF):c.1651del (p.Glu551fs) rs80356587
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2866+1G>A rs2148047884
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala) rs28937591
NM_194248.3(OTOF):c.766-2A>G rs80356584
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg) rs121908598
NM_198999.3(SLC26A5):c.209G>A (p.Trp70Ter) rs431905518
NM_198999.3(SLC26A5):c.390A>C (p.Arg130Ser) rs431905517
NR_029512.1(MIR96):n.13G>A rs587776522
NR_029512.1(MIR96):n.14C>A rs587776523
del(GJB6-D13S1830)
m.1095T>C rs267606618
m.12201T>C rs387906733
m.1291T>C rs267606620
m.3388C>A rs387906730
m.4295A>G rs121434467
m.7445A>C rs199474818
m.7510T>C rs199474820
m.7511T>C rs199474821
m.961T>G rs3888511
m.961delTinsC(2_7) rs1556422499

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