ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Genome-Nilou Lab

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 452
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_000372.5(TYR):c.140G>A (p.Gly47Asp) rs61753180 0.00029
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_000372.5(TYR):c.242C>T (p.Pro81Leu) rs28940876 0.00018
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317 0.00011
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000317.3(PTS):c.317C>T (p.Thr106Met) rs200712908 0.00010
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_000372.5(TYR):c.229C>T (p.Arg77Trp) rs61753184 0.00006
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185 0.00006
NM_000372.5(TYR):c.896G>A (p.Arg299His) rs61754375 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter) rs587783211 0.00006
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn) rs121908011 0.00004
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) rs62645917 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_014363.6(SACS):c.2439_2440del (p.Val815fs) rs775059063 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter) rs199910503 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter) rs587783295 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575 0.00003
NM_000277.3(PAH):c.631C>A (p.Pro211Thr) rs62514931 0.00003
NM_000372.5(TYR):c.346C>T (p.Arg116Ter) rs61753256 0.00003
NM_000372.5(TYR):c.533G>A (p.Trp178Ter) rs61754360 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) rs202199411 0.00003
NM_018136.5(ASPM):c.4422G>A (p.Trp1474Ter) rs147622433 0.00003
NM_206933.4(USH2A):c.10684G>T (p.Glu3562Ter) rs749702843 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084 0.00002
NM_000317.3(PTS):c.84-3C>G rs1230781262 0.00002
NM_000372.5(TYR):c.1037-1G>A rs61754382 0.00002
NM_000372.5(TYR):c.1037-2A>G rs748901196 0.00002
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) rs750732115 0.00002
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs) rs587783220 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter) rs1591310948 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000317.3(PTS):c.186+1G>T rs1256819927 0.00001
NM_000317.3(PTS):c.260C>T (p.Pro87Leu) rs765406631 0.00001
NM_000317.3(PTS):c.286G>A (p.Asp96Asn) rs104894280 0.00001
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000372.5(TYR):c.1036+1G>A rs763715899 0.00001
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter) rs1013801316 0.00001
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg) rs61754392 0.00001
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr) rs28940879 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000372.5(TYR):c.658C>T (p.Gln220Ter) rs797046083 0.00001
NM_000372.5(TYR):c.74dup (p.Ser26fs) rs1057518763 0.00001
NM_000372.5(TYR):c.880G>A (p.Glu294Lys) rs757754120 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001378454.1(ALMS1):c.11668+1G>A rs1181992959 0.00001
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) rs767215758 0.00001
NM_002485.5(NBN):c.11del (p.Leu4fs) rs1064793210 0.00001
NM_002485.5(NBN):c.123del (p.Ser42fs) rs587781891 0.00001
NM_002485.5(NBN):c.1716dup (p.Glu573fs) rs1060503483 0.00001
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter) rs1337679118 0.00001
NM_002485.5(NBN):c.175C>T (p.Gln59Ter) rs1554568427 0.00001
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter) rs730881857 0.00001
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) rs730881864 0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter) rs1057516320 0.00001
NM_002485.5(NBN):c.60del (p.Gly21fs) rs758708229 0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter) rs779098734 0.00001
NM_002485.5(NBN):c.842T>G (p.Leu281Ter) rs786205135 0.00001
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter) rs1057517250 0.00001
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476 0.00001
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter) rs774906736 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter) rs755824618 0.00001
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter) rs145766983 0.00001
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs) rs754767041 0.00001
NM_018136.5(ASPM):c.1789C>T (p.Arg597Ter) rs759485449 0.00001
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter) rs774338373 0.00001
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter) rs199422161 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter) rs199422168 0.00001
NM_018136.5(ASPM):c.7324C>T (p.Arg2442Ter) rs769364943 0.00001
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs) rs587783283 0.00001
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter) rs587783292 0.00001
NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) rs77424753 0.00001
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter) rs199422195 0.00001
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503 0.00001
NM_153700.2(STRC):c.4837G>T (p.Glu1613Ter) rs769443188 0.00001
NM_206933.4(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193 0.00001
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter) rs781223647 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter) rs1394737087 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.3317-2A>G rs2034951427 0.00001
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter) rs764797292 0.00001
NM_206933.4(USH2A):c.4576G>A (p.Gly1526Arg) rs769198746 0.00001
NM_206933.4(USH2A):c.5399G>A (p.Trp1800Ter) rs1553299079 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter) rs751130485 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760 0.00001
NM_206933.4(USH2A):c.8834G>A (p.Trp2945Ter) rs760302201 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter) rs772100045 0.00001
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs) rs141672841 0.00001
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000070.3(CAPN3):c.801+1G>A rs1459288402
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr) rs1192400891
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.931_932del (p.Leu311fs) rs281865430
NM_000317.3(PTS):c.118_121del (p.Phe40fs) rs747260038
NM_000317.3(PTS):c.166G>A (p.Val56Met) rs104894277
NM_000317.3(PTS):c.259C>T (p.Pro87Ser) rs104894276
NM_000317.3(PTS):c.393del (p.Val132fs) rs780332520
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000372.5(TYR):c.1185-2A>G rs1289685376
NM_000372.5(TYR):c.1267del (p.Glu423fs) rs1565423674
NM_000372.5(TYR):c.1342G>A (p.Asp448Asn) rs104894318
NM_000372.5(TYR):c.1456del (p.Ala486fs) rs1590909462
NM_000372.5(TYR):c.286dup (p.Met96fs) rs61753190
NM_000372.5(TYR):c.338_339del (p.Thr113fs) rs61753254
NM_000372.5(TYR):c.387_389delinsGG (p.Glu130fs) rs1565386582
NM_000372.5(TYR):c.391_393del (p.Lys131del) rs1413017181
NM_000372.5(TYR):c.572del (p.Gly191fs) rs61754361
NM_000372.5(TYR):c.655G>A (p.Glu219Lys) rs747995722
NM_000372.5(TYR):c.714G>A (p.Trp238Ter) rs1565386964
NM_000372.5(TYR):c.732_733del (p.Cys244_Asp245delinsTer) rs61754368
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter) rs765329261
NM_000372.5(TYR):c.895C>A (p.Arg299Ser) rs61754374
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000372.5(TYR):c.976C>T (p.Gln326Ter) rs540911439
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1211del rs1235397597
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.274G>A (p.Glu92Lys) rs121908751
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs) rs1180888940
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter) rs121908974
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.1155dup (p.Val386fs) rs748513310
NM_002485.5(NBN):c.115del (p.Gln39fs) rs864622511
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter) rs1554559323
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs) rs1238152597
NM_002485.5(NBN):c.1336del (p.Ala446fs) rs1554559083
NM_002485.5(NBN):c.1366del (p.Arg456fs) rs1554559038
NM_002485.5(NBN):c.1396dup (p.Arg466fs) rs1349928568
NM_002485.5(NBN):c.1397+1del rs1060503467
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter) rs755805461
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs) rs864622333
NM_002485.5(NBN):c.141_142del (p.Leu48fs) rs750375741
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter) rs587782130
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs) rs764884516
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter) rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs) rs759232053
NM_002485.5(NBN):c.156_157del (p.Ser53fs) rs767454740
NM_002485.5(NBN):c.163_171+3del rs1057516772
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs) rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs) rs766044684
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter) rs786201745
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter) rs864622143
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer) rs768378152
NM_002485.5(NBN):c.1848del (p.Glu617fs) rs1057516611
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs) rs1060503466
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs) rs1178384498
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.1974del (p.Glu658fs) rs1057516668
NM_002485.5(NBN):c.210_211del (p.Asp70fs) rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs) rs762664474
NM_002485.5(NBN):c.212_215del (p.Asn71fs) rs1064795634
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter) rs1064795816
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer) rs1586108633
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002485.5(NBN):c.317dup (p.Arg107fs) rs745355767
NM_002485.5(NBN):c.445del (p.His149fs) rs1554567892
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs) rs1554566678
NM_002485.5(NBN):c.55_56del (p.Leu19fs) rs876659305
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.589dup (p.Tyr197fs) rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs) rs1554564297
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.676del (p.Thr226fs) rs1563561558
NM_002485.5(NBN):c.698_701del (p.Lys233fs) rs587780100
NM_002485.5(NBN):c.737del (p.Gly246fs) rs1811464751
NM_002485.5(NBN):c.741_742dup (p.Glu248fs) rs864309670
NM_002485.5(NBN):c.75dup (p.Val26fs) rs1199711768
NM_002485.5(NBN):c.800dup (p.Thr268fs) rs1554563955
NM_002485.5(NBN):c.808_809del (p.Val270fs) rs786202490
NM_002485.5(NBN):c.817dup (p.Thr273fs) rs730881839
NM_002485.5(NBN):c.83_89del (p.Arg28fs) rs1554569106
NM_002485.5(NBN):c.872dup (p.Ser292fs) rs1563559078
NM_002485.5(NBN):c.88_89del (p.Asn30fs) rs587781718
NM_002485.5(NBN):c.917del (p.Pro306fs) rs1554562185
NM_002485.5(NBN):c.935T>A (p.Leu312Ter) rs371480039
NM_002485.5(NBN):c.93_94del (p.Ala32fs) rs864622253
NM_002485.5(NBN):c.974del (p.Pro325fs) rs1554562110
NM_002485.5(NBN):c.976C>T (p.Gln326Ter) rs121908973
NM_002485.5(NBN):c.995-2A>G rs876659521
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) rs2128711268
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser) rs80358278
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs) rs1400601705
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter) rs1555249555
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) rs923921184
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter) rs867249938
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter) rs770901638
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter) rs1057517311
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) rs1868872666
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter) rs1485209013
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter) rs766711286
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter) rs770490672
NM_014363.6(SACS):c.699del (p.Asp235fs) rs1415870785
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) rs786204750
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014363.6(SACS):c.8793dup (p.Arg2932fs) rs767871841
NM_014363.6(SACS):c.961C>T (p.Arg321Ter) rs1175545518
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs) rs199422137
NM_018136.5(ASPM):c.1179del (p.Asn394fs) rs199422138
NM_018136.5(ASPM):c.1726_1727del (p.Lys576fs) rs1057518268
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs) rs1170413397
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs) rs587783240
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter) rs137852995
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs) rs587783245
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter) rs199422165
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter) rs587783247
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter) rs587783248
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter) rs1553223496
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs) rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs) rs587783258
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs) rs770540184
NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) rs1451306414
NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) rs758549961
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs) rs763800571
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs) rs587783278
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter) rs587783287
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter) rs1482100822
NM_025114.4(CEP290):c.164_167del (p.Thr55fs) rs758550675
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_138694.4(PKHD1):c.881-1G>A rs1554220431
NM_153700.2(STRC):c.4251del (p.Leu1417_Leu1418insTer) rs1366021609
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)
NM_206933.4(USH2A):c.10388-1G>A rs1553261478
NM_206933.4(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer) rs1661659605
NM_206933.4(USH2A):c.11065C>T (p.Arg3689Ter) rs41314534
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter) rs755804518
NM_206933.4(USH2A):c.11235C>A (p.Tyr3745Ter) rs768062696
NM_206933.4(USH2A):c.11389+1G>A rs368770647
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.1144-2A>T rs2037686445
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.1214del (p.Asn405fs) rs750228923
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1226G>A (p.Trp409Ter) rs2037682180
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs) rs1415157305
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs) rs746447649
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.13599del (p.Met4535fs) rs2102664886
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14225_14232dup (p.Val4745fs) rs1657036615
NM_206933.4(USH2A):c.14365C>T (p.Gln4789Ter) rs1571929573
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter) rs758660532
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1645-2A>G
NM_206933.4(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter) rs2037013894
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter) rs868562952
NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) rs376674482
NM_206933.4(USH2A):c.2293C>T (p.Gln765Ter) rs777629750
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.2391_2392del (p.Cys797_Asp798delinsTer) rs2036063892
NM_206933.4(USH2A):c.2809+1G>A rs759433119
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.4(USH2A):c.4046del (p.Ser1349fs) rs2034899784
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.4217C>A (p.Ser1406Ter) rs1308702971
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4405C>T (p.Gln1469Ter) rs797045113
NM_206933.4(USH2A):c.4758+1G>A
NM_206933.4(USH2A):c.4933G>T (p.Gly1645Ter) rs2032147505
NM_206933.4(USH2A):c.5356C>T (p.Gln1786Ter) rs2102554503
NM_206933.4(USH2A):c.545_546del (p.Lys182fs) rs780779563
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter) rs762837293
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.612dup (p.Arg205fs) rs2039614529
NM_206933.4(USH2A):c.6657+1G>A rs1571876788
NM_206933.4(USH2A):c.6904_6920dup (p.Gln2307fs) rs1667472317
NM_206933.4(USH2A):c.6905del (p.His2302fs) rs2102458388
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7168G>T (p.Gly2390Ter) rs376983577
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7454T>A (p.Leu2485Ter) rs2102469649
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.7999G>T (p.Glu2667Ter) rs1301139848
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8126_8127dup (p.Asn2710fs) rs768367348
NM_206933.4(USH2A):c.820C>G (p.Arg274Gly) rs397518036
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.852_853del rs1188025733
NM_206933.4(USH2A):c.8618T>G (p.Leu2873Ter) rs2102450764
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9270C>A (p.Cys3090Ter) rs779572631
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721
NM_206933.4(USH2A):c.9473del (p.Lys3158fs) rs2102796411
NM_206933.4(USH2A):c.9538del (p.Cys3180fs) rs36108227
NM_206933.4(USH2A):c.9874C>T (p.Gln3292Ter) rs2102778615
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs) rs1571703770

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.