ClinVar Miner

List of variants studied for auditory system disease by Baylor Genetics

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
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HGVS dbSNP
GRCh37/hg19 15q15.3(chr15:43890409-43939642)
GRCh37/hg19 15q15.3(chr15:43891364-43939659)
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 Xq22.3(chrX:107802035-107802303)
GRCh37/hg19 Xq28(chrX:152980470-153032459)
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val)
NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)
NM_000091.5(COL4A3):c.663_664del (p.Arg221fs) rs1469479748
NM_000092.4(COL4A4):c.2985C>T (p.Pro995=) rs79261248
NM_000092.4(COL4A4):c.4678C>T (p.Arg1560Cys) rs200973262
NM_000092.5(COL4A4):c.1030-14A>G
NM_000092.5(COL4A4):c.2906C>G rs35138315
NM_000092.5(COL4A4):c.3214+1G>T
NM_000092.5(COL4A4):c.3581T>C (p.Leu1194Ser)
NM_000092.5(COL4A4):c.4660C>T (p.Leu1554Phe)
NM_000092.5(COL4A4):c.4924C>T (p.His1642Tyr)
NM_000092.5(COL4A4):c.865C>T (p.Arg289Cys)
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145
NM_000245.4(MET):c.901A>G (p.Thr301Ala) rs201687037
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs) rs1591286221
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter) rs1555067598
NM_000260.4(MYO7A):c.1847G>A (p.Arg616Gln)
NM_000260.4(MYO7A):c.2083G>A (p.Ala695Thr)
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.2355del (p.Asn786fs) rs1591369118
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2573G>A (p.Arg858His)
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg) rs1296612982
NM_000260.4(MYO7A):c.3226G>A (p.Glu1076Lys)
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.3802_3805del (p.Thr1268fs)
NM_000260.4(MYO7A):c.3878_3879del (p.Leu1293fs) rs760251968
NM_000260.4(MYO7A):c.470+1G>A rs797044510
NM_000260.4(MYO7A):c.4927G>A (p.Val1643Ile) rs1591467534
NM_000260.4(MYO7A):c.5123G>A (p.Arg1708His)
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.6013A>G (p.Lys2005Glu) rs186644871
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)
NM_000268.4(NF2):c.1264G>A (p.Glu422Lys)
NM_000268.4(NF2):c.1395_1396delinsAT (p.Arg466Ter)
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000268.4(NF2):c.1786T>C (p.Ter596Gln) rs1569319775
NM_000268.4(NF2):c.675+5G>T
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln)
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser)
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs)
NM_000400.4(ERCC2):c.949+3G>T
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1615-2A>G
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103
NM_000441.2(SLC26A4):c.1922del (p.Asn641fs) rs1584337134
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302
NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser)
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508
NM_000441.2(SLC26A4):c.765+4A>T
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2235A>T (p.Arg745Ser)
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu)
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly)
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly)
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter)
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu)
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)
NM_001039213.4(CEACAM16):c.-8G>A
NM_001039213.4(CEACAM16):c.245C>T (p.Thr82Met)
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln)
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
NM_001084.5(PLOD3):c.700G>A (p.Asp234Asn)
NM_001101.5(ACTB):c.257G>A (p.Trp86Ter)
NM_001110556.2(FLNA):c.5162del (p.Val1721fs)
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
NM_001127453.2(GSDME):c.212-1G>A
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.3(DNMT1):c.4492G>A (p.Gly1498Ser)
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)
NM_001145809.2(MYH14):c.1994C>T (p.Ser665Leu) rs373698416
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011
NM_001145809.2(MYH14):c.2839C>T (p.Arg947Cys) rs757658628
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)
NM_001145809.2(MYH14):c.491G>C (p.Gly164Ala)
NM_001145809.2(MYH14):c.5469+13del
NM_001145853.1(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) rs1590053918
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His)
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.965+2T>C
NM_001199799.2(ILDR1):c.1312C>T (p.Pro438Ser)
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys)
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256447.2(BCAP31):c.-44-270C>A rs1057518721
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu)
NM_001277269.1(OTOG):c.371C>G (p.Ala124Gly) rs545257884
NM_001277269.1(OTOG):c.7694G>C (p.Arg2565Pro) rs563003848
NM_001277269.1(OTOG):c.8161G>A (p.Asp2721Asn) rs189910531
NM_001277269.2(OTOG):c.[421G>A] rs552304627
NM_001292063.2(OTOG):c.1148A>G (p.Tyr383Cys)
NM_001292063.2(OTOG):c.2542A>T (p.Ile848Phe)
NM_001292063.2(OTOG):c.5480C>T (p.Ser1827Phe)
NM_001292063.2(OTOG):c.5696C>A (p.Ser1899Tyr)
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg)
NM_001292063.2(OTOG):c.7057C>T (p.Arg2353Cys)
NM_001292063.2(OTOG):c.7090G>A (p.Asp2364Asn)
NM_001292063.2(OTOG):c.7121G>A (p.Cys2374Tyr)
NM_001292063.2(OTOG):c.7480+6T>C
NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val)
NM_001304438.2(TMEM132E):c.2730C>G (p.Ile910Met)
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_001378454.1(ALMS1):c.1165G>C (p.Asp389His)
NM_001378454.1(ALMS1):c.12247G>C (p.Asp4083His)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)
NM_001378454.1(ALMS1):c.265C>T (p.Pro89Ser)
NM_001378454.1(ALMS1):c.8183A>T (p.Asn2728Ile)
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val)
NM_001378454.1(ALMS1):c.9700A>G (p.Asn3234Asp)
NM_001378457.1(DMXL2):c.8527-15_8527-11dup
NM_001378609.3(OTOGL):c.3626A>G (p.Tyr1209Cys)
NM_001378609.3(OTOGL):c.3931C>T (p.His1311Tyr)
NM_001379180.1(ESRRB):c.*1451C>G
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs)
NM_001384140.1(PCDH15):c.4368-2157C>A
NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr)
NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu)
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431
NM_001693.4(ATP6V1B2):c.1315G>A (p.Val439Ile)
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)
NM_001851.5(COL9A1):c.876+2T>A rs149830493
NM_001854.4(COL11A1):c.1684-1G>C
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
NM_001854.4(COL11A1):c.4526A>C (p.Gln1509Pro) rs1057521422
NM_002160.4(TNC):c.1580G>C (p.Cys527Ser)
NM_002160.4(TNC):c.2239C>T (p.Arg747Trp)
NM_002160.4(TNC):c.2795G>C (p.Gly932Ala)
NM_002160.4(TNC):c.2960C>T (p.Thr987Met) rs778506429
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg) rs142596580
NM_002241.5(KCNJ10):c.278A>G (p.His93Arg)
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002691.4(POLD1):c.1055G>T (p.Arg352Leu) rs556862476
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845
NM_002691.4(POLD1):c.232C>T (p.Arg78Cys) rs141319800
NM_002691.4(POLD1):c.965G>A (p.Arg322His) rs980303681
NM_002700.3(POU4F3):c.295C>T (p.His99Tyr) rs756195567
NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) rs137852540
NM_002764.4(PRPS1):c.842T>G (p.Met281Arg)
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1678C>G (p.Leu560Val)
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_003611.3(OFD1):c.1640A>G (p.Lys547Arg)
NM_003611.3(OFD1):c.3G>A (p.Met1Ile)
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.935+4A>G
NM_003672.4(CDC14A):c.1251-5C>T
NM_003672.4(CDC14A):c.1745G>A (p.Arg582His)
NM_004004.6(GJB2):c.-16C>T
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_004086.3(COCH):c.329A>G (p.Gln110Arg)
NM_004278.4(PIGL):c.296T>G (p.Leu99Trp)
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004357.5(CD151):c.493C>T (p.Arg165Ter)
NM_004357.5(CD151):c.511C>T (p.Arg171Cys)
NM_004447.6(EPS8):c.871G>T (p.Ala291Ser) rs202097537
NM_004452.3(ESRRB):c.1438C>T (p.Pro480Ser) rs201448899
NM_004452.3(ESRRB):c.1496G>A (p.Gly499Asp) rs371116651
NM_004526.4(MCM2):c.1231G>A (p.Glu411Lys)
NM_004526.4(MCM2):c.1447C>T (p.Pro483Ser)
NM_004526.4(MCM2):c.277G>A (p.Glu93Lys)
NM_004568.5(SERPINB6):c.121G>A (p.Val41Ile) rs140220538
NM_004700.4(KCNQ4):c.1565C>T (p.Thr522Met)
NM_004839.4(HOMER2):c.130A>G (p.Ser44Gly)
NM_005012.4(ROR1):c.2728T>G (p.Tyr910Asp)
NM_005219.5(DIAPH1):c.154T>C (p.Phe52Leu)
NM_005219.5(DIAPH1):c.2602C>T (p.Arg868Cys) rs1554201531
NM_005262.3(GFER):c.217del (p.Ala73fs) rs1555486560
NM_005262.3(GFER):c.581G>A (p.Arg194His) rs121908192
NM_005360.5(MAF):c.60A>T (p.Glu20Asp)
NM_005422.2(TECTA):c.2444C>T (p.Thr815Met) rs111759871
NM_005422.2(TECTA):c.4633G>A (p.Val1545Ile) rs377156351
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu)
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys)
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu)
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr)
NM_005702.4(ERAL1):c.151G>A (p.Ala51Thr)
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala)
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu) rs201282601
NM_006005.3(WFS1):c.2191A>G (p.Met731Val) rs144010362
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg) rs797045075
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)
NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) rs1131691593
NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu)
NM_006735.4(HOXA2):c.1006C>G (p.Leu336Val)
NM_006941.3(SOX10):c.316C>G (p.Arg106Gly) rs1057518656
NM_006941.4(SOX10):c.1165G>A (p.Gly389Ser)
NM_006941.4(SOX10):c.181G>A (p.Gly61Ser)
NM_006996.3(SLC19A2):c.124T>G (p.Phe42Val)
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln) rs769248913
NM_012431.3(SEMA3E):c.1905G>A (p.Met635Ile)
NM_012478.4(WBP2):c.466C>G (p.Pro156Ala)
NM_014285.7(EXOSC2):c.803T>G (p.Ile268Ser)
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.3258G>C (p.Gln1086His) rs181507134
NM_015120.4(ALMS1):c.4225G>A (p.Val1409Ile) rs200529564
NM_015120.4(ALMS1):c.7291A>C (p.Ser2431Arg) rs539112266
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.9463A>T (p.Thr3155Ser) rs553507775
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn)
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) rs150586098
NM_015425.6(POLR1A):c.4034+1G>T
NM_015631.6(TCTN3):c.1299-3T>C
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)
NM_015972.4(POLR1D):c.214A>G (p.Thr72Ala)
NM_016030.6(TRAPPC12):c.1597A>G (p.Arg533Gly)
NM_016030.6(TRAPPC12):c.1604-1G>T
NM_016030.6(TRAPPC12):c.496C>A (p.Arg166Ser)
NM_016030.6(TRAPPC12):c.641C>T (p.Ala214Val)
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp)
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu)
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr)
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177
NM_016239.4(MYO15A):c.2452C>A (p.Arg818Ser)
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718
NM_016239.4(MYO15A):c.4153T>G (p.Ser1385Ala)
NM_016239.4(MYO15A):c.4235T>A (p.Phe1412Tyr) rs1597779977
NM_016239.4(MYO15A):c.4976G>A (p.Arg1659Gln) rs141473928
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402
NM_016239.4(MYO15A):c.5867G>A (p.Arg1956Gln) rs769596933
NM_016239.4(MYO15A):c.5962G>A (p.Glu1988Lys) rs749019041
NM_016239.4(MYO15A):c.823G>A (p.Gly275Ser)
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)
NM_016418.5(NF2):c.517-1G>A rs1064796632
NM_016653.3(MAP3K20):c.817T>C (p.Cys273Arg)
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015
NM_017780.4(CHD7):c.1554G>T (p.Gln518His)
NM_017780.4(CHD7):c.1848del (p.Asp618fs)
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn) rs1563595388
NM_017780.4(CHD7):c.247A>G (p.Met83Val)
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5948T>C (p.Val1983Ala)
NM_017780.4(CHD7):c.6193C>T (p.Arg2065Cys)
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser)
NM_017780.4(CHD7):c.8063T>G (p.Ile2688Arg) rs755066542
NM_018060.4(IARS2):c.1016C>T (p.Ser339Phe)
NM_018060.4(IARS2):c.1821G>A (p.Trp607Ter) rs373436822
NM_018060.4(IARS2):c.601C>T (p.Arg201Cys)
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838
NM_018429.3(BDP1):c.2804G>T (p.Arg935Ile)
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
NM_018714.3(COG1):c.1274G>A (p.Arg425Gln)
NM_018714.3(COG1):c.1282-3T>C rs188853520
NM_018714.3(COG1):c.1343C>T (p.Ala448Val)
NM_018714.3(COG1):c.1367C>G (p.Thr456Ser)
NM_018714.3(COG1):c.1982T>G (p.Ile661Ser)
NM_018714.3(COG1):c.671G>A (p.Arg224His)
NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala)
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly)
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly)
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys)
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser)
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349
NM_022124.6(CDH23):c.68-3C>T rs142456469
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln) rs769627991
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
NM_022772.4(EPS8L2):c.206C>T (p.Thr69Met)
NM_022772.4(EPS8L2):c.779A>G (p.Asn260Ser)
NM_023073.3(CPLANE1):c.5557C>T (p.Gln1853Ter)
NM_023073.3(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850
NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter) rs147416429
NM_023073.3(CPLANE1):c.8882G>A (p.Arg2961His) rs771622959
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)
NM_024417.5(FDXR):c.472G>A (p.Val158Met) rs1441084539
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe) rs1598518754
NM_024678.6(NARS2):c.844G>A (p.Ala282Thr) rs146900529
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly)
NM_025074.7(FRAS1):c.2869+1G>A
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg)
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp)
NM_031475.3(ESPN):c.1426A>C (p.Lys476Gln)
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.10974G>C (p.Gln3658His)
NM_032119.4(ADGRV1):c.13433+9A>G
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys) rs375450242
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062
NM_032119.4(ADGRV1):c.6017G>A (p.Gly2006Asp)
NM_032119.4(ADGRV1):c.7519A>G (p.Thr2507Ala)
NM_032229.3(SLITRK6):c.1112C>T (p.Ala371Val)
NM_032638.5(GATA2):c.1405C>T (p.His469Tyr)
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
NM_032861.4(SERAC1):c.1828+3A>G
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
NM_033056.4(PCDH15):c.3131C>T (p.Pro1044Leu) rs397517455
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter) rs1384677442
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del) rs1572796197
NM_033109.5(PNPT1):c.2147A>G (p.Lys716Arg)
NM_033109.5(PNPT1):c.298-2A>T
NM_033109.5(PNPT1):c.918del (p.Val307fs)
NM_033380.3(COL4A5):c.2600T>C (p.Ile867Thr)
NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)
NM_033380.3(COL4A5):c.4016-1G>A rs797045035
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His)
NM_033380.3(COL4A5):c.462G>A (p.Met154Ile)
NM_033380.3(COL4A5):c.4987A>G (p.Met1663Val)
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter) rs104886071
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087
NM_057176.3(BSND):c.482C>T (p.Ala161Val) rs369618892
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser)
NM_133261.3(GIPC3):c.592G>T (p.Asp198Tyr)
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs)
NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)
NM_138395.4(MARS2):c.928A>G (p.Lys310Glu)
NM_138437.6(GPRASP2):c.1295G>A (p.Gly432Glu)
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073
NM_144612.6(LOXHD1):c.1843C>T (p.Arg615Trp) rs112463030
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.4256C>T (p.Thr1419Ile) rs866017859
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144612.6(LOXHD1):c.5869G>A (p.Glu1957Lys) rs373848470
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)
NM_144672.4(OTOA):c.268-677G>A
NM_144991.3(TSPEAR):c.1856+19C>T
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801
NM_144991.3(TSPEAR):c.304-5450G>T
NM_145207.3(SPATA5):c.1039C>A (p.Gln347Lys)
NM_145207.3(SPATA5):c.1154C>T (p.Pro385Leu) rs1553956091
NM_145207.3(SPATA5):c.164-4A>G
NM_145207.3(SPATA5):c.1967T>C (p.Met656Thr)
NM_145207.3(SPATA5):c.2306del (p.Leu769fs)
NM_145207.3(SPATA5):c.778A>G (p.Ile260Val) rs200105631
NM_145207.3(SPATA5):c.847C>G (p.Leu283Val)
NM_145331.3(MAP3K7):c.868-17T>A
NM_147196.2(TMIE):c.274C>T (p.Arg92Trp) rs28941781
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_153676.4(USH1C):c.1910C>G (p.Thr637Ser)
NM_153676.4(USH1C):c.2014-1G>A rs150567427
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153700.2(STRC):c.274C>T (p.Arg92Trp) rs1484849703
NM_153700.2(STRC):c.3218G>A (p.Arg1073Gln) rs727503449
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195
NM_170682.4(P2RX2):c.381+2T>C rs200978001
NM_173591.3(OTOGL):c.1368-3T>C rs374833540
NM_173591.3(OTOGL):c.3250A>C (p.Asn1084His) rs867315415
NM_173591.3(OTOGL):c.3461A>G (p.Asp1154Gly) rs202085918
NM_173591.3(OTOGL):c.3539A>G (p.Gln1180Arg) rs200392453
NM_173591.3(OTOGL):c.4207A>G (p.Met1403Val) rs774172292
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432
NM_174916.3(UBR1):c.1539+2T>G
NM_174916.3(UBR1):c.2261G>A (p.Arg754His)
NM_174916.3(UBR1):c.947G>A (p.Arg316His)
NM_178335.3(CCDC50):c.199C>G (p.Leu67Val)
NM_181458.4(PAX3):c.467G>C (p.Arg156Pro)
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.1471C>T (p.Leu491Phe) rs150834957
NM_194248.3(OTOF):c.3013C>G (p.Pro1005Ala)
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly) rs199904558
NM_194248.3(OTOF):c.3918G>C (p.Lys1306Asn) rs774929350
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_198999.3(SLC26A5):c.92G>C (p.Arg31Thr)
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs) rs1571947757
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter) rs1571701072
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788
NM_206933.4(USH2A):c.7301-6C>T rs375499259
NM_207361.6(FREM2):c.6101G>T (p.Gly2034Val)

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