ClinVar Miner

List of variants studied for autosomal recessive disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 602
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130 0.07467
NM_000492.4(CFTR):c.-8G>C rs1800501 0.04368
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly) rs77360687 0.00842
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) rs141663679 0.00207
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NR_003051.3(RMRP):n.71A>G rs199476103 0.00156
NM_000492.4(CFTR):c.*684A>G rs146818281 0.00153
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_002160.4(TNC):c.2374G>T (p.Gly792Cys) rs150868783 0.00131
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser) rs200781463 0.00113
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_005529.7(HSPG2):c.11077C>T (p.Arg3693Trp) rs146286188 0.00028
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898 0.00019
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_003937.3(KYNU):c.256dup (p.Tyr86fs) rs550079487 0.00017
NM_016239.4(MYO15A):c.2116G>A (p.Ala706Thr) rs932191004 0.00017
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_000372.5(TYR):c.1467dup (p.Ala490fs) rs61754399 0.00014
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser) rs374795191 0.00014
NM_000092.5(COL4A4):c.2161C>T (p.Pro721Ser) rs200759521 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_001130987.2(DYSF):c.308A>G (p.Asn103Ser) rs201834175 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_000492.3(CFTR):c.3718-2477C>T rs75039782 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.489+1G>T rs78756941 0.00011
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690 0.00008
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636 0.00006
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_017872.5(THG1L):c.137C>A (p.Thr46Asn) rs746295635 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000492.4(CFTR):c.2988G>A (p.Gln996=) rs121908797 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_001139.3(ALOX12B):c.1272dup (p.Lys425fs) rs763328506 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_021628.3(ALOXE3):c.680+1G>A rs764781178 0.00004
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His) rs138611889 0.00004
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala) rs375449284 0.00004
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu) rs1478296366 0.00004
NM_024989.4(PGAP1):c.2042del (p.Leu681fs) rs756609752 0.00004
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter) rs398124478 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000260.4(MYO7A):c.2684G>A (p.Arg895His) rs1007895502 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001510.4(GRID2):c.899G>A (p.Arg300His) rs201635818 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu) rs761399728 0.00003
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_198428.3(BBS9):c.190C>T (p.Gln64Ter) rs769256027 0.00003
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000492.4(CFTR):c.579+3A>G rs397508761 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874 0.00002
NM_000553.6(WRN):c.1466C>T (p.Pro489Leu) rs750052448 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys) rs773001194 0.00001
NM_000092.5(COL4A4):c.4130G>A (p.Arg1377Gln) rs559719653 0.00001
NM_000092.5(COL4A4):c.754G>A (p.Gly252Ser) rs2060673883 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000492.4(CFTR):c.1006_1007insG (p.Ile336fs) rs397508138 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1438G>T (p.Gly480Cys) rs79282516 0.00001
NM_000492.4(CFTR):c.1478A>G (p.Gln493Arg) rs397508214 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1584+1G>A rs397508230 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter) rs397508296 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2738A>G (p.Tyr913Cys) rs121909008 0.00001
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230 0.00001
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461 0.00001
NM_000492.4(CFTR):c.302T>G (p.Leu101Ter) rs397508484 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=) rs144781064 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607 0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp) rs397508609 0.00001
NM_000492.4(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616 0.00001
NM_000492.4(CFTR):c.3893G>T (p.Gly1298Val) rs193922522 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4242+1G>T rs372227120 0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys) rs149197463 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.579+5G>A rs78440224 0.00001
NM_000492.4(CFTR):c.580-2A>G rs193922730 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg) rs1847910654 0.00001
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys) rs200763423 0.00001
NM_000553.6(WRN):c.673C>T (p.Arg225Ter) rs370324188 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314 0.00001
NM_001040167.2(LFNG):c.527C>T (p.Ala176Val) rs376234607 0.00001
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu) rs760772706 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) rs1412967184 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln) rs749608883 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) rs752677090 0.00001
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp) rs199921604 0.00001
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) rs762947018 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_144628.4(TBC1D20):c.932C>A (p.Ala311Asp) rs761833391 0.00001
NM_198428.3(BBS9):c.1138G>T (p.Glu380Ter) rs370729939 0.00001
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1
Multiple alleles
NM_000057.4(BLM):c.2945G>A (p.Arg982Lys) rs1281589498
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000092.5(COL4A4):c.994G>A (p.Gly332Arg)
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2003G>T (p.Arg668Leu) rs368575149
NM_000260.4(MYO7A):c.2766_2779del (p.Lys923fs)
NM_000260.4(MYO7A):c.5043+3A>G
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
NM_000271.5(NPC1):c.3591+2T>C rs1555631888
NM_000271.5(NPC1):c.3618del (p.Lys1206fs)
NM_000277.3(PAH):c.776C>G (p.Ala259Gly)
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.3(CFTR):c.2805_2810delinsTCAGA (p.Pro936fs) rs1554391033
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.54-5940_273+10250del
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys) rs397508139
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro) rs397508144
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs) rs387906360
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.4(CFTR):c.1040G>T (p.Arg347Leu) rs77932196
NM_000492.4(CFTR):c.1068G>A (p.Trp356Ter) rs397508150
NM_000492.4(CFTR):c.1080del (p.Trp361fs)
NM_000492.4(CFTR):c.1116+2T>A
NM_000492.4(CFTR):c.1117-1G>A rs797045160
NM_000492.4(CFTR):c.1117-5A>G rs397508161
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter) rs397508165
NM_000492.4(CFTR):c.1159_1160del (p.Leu387fs)
NM_000492.4(CFTR):c.115C>T (p.Gln39Ter) rs397508168
NM_000492.4(CFTR):c.1209G>T (p.Glu403Asp)
NM_000492.4(CFTR):c.1210-1G>C rs397508178
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_000492.4(CFTR):c.1221del (p.Glu407fs)
NM_000492.4(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.4(CFTR):c.1240C>T (p.Gln414Ter) rs397508183
NM_000492.4(CFTR):c.1243_1247del (p.Gln414_Asn415insTer) rs397508184
NM_000492.4(CFTR):c.1244del (p.Asn415fs)
NM_000492.4(CFTR):c.1282C>G (p.Leu428Val)
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1360_1381delinsATAGAAA rs1554382656
NM_000492.4(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.4(CFTR):c.1368del (p.Ala457fs)
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1388G>A (p.Gly463Asp) rs1163866901
NM_000492.4(CFTR):c.1392+1G>A rs397508197
NM_000492.4(CFTR):c.1394C>T (p.Thr465Ile)
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys) rs756206533
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del) rs121908745
NM_000492.4(CFTR):c.1517T>A (p.Ile506Asn)
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1540G>T (p.Glu514Ter) rs1799425190
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
NM_000492.4(CFTR):c.156del (p.Lys52fs) rs1346705436
NM_000492.4(CFTR):c.1584+2T>C rs397508231
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.164+1G>T rs397508243
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.4(CFTR):c.1688A>G (p.Tyr563Cys)
NM_000492.4(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.4(CFTR):c.1709T>C (p.Leu570Ser)
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.1735G>C (p.Asp579His)
NM_000492.4(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.4(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1762G>T (p.Glu588Ter)
NM_000492.4(CFTR):c.1767-2A>G
NM_000492.4(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.4(CFTR):c.1849_1851del (p.Leu617del)
NM_000492.4(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1911del (p.Gln637fs) rs1554389296
NM_000492.4(CFTR):c.1949del (p.Phe650fs)
NM_000492.4(CFTR):c.1969A>T (p.Arg657Ter) rs1792036190
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter) rs1562907896
NM_000492.4(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.4(CFTR):c.2017G>T (p.Gly673Ter) rs397508331
NM_000492.4(CFTR):c.2052dup (p.Gln685fs) rs121908746
NM_000492.4(CFTR):c.2053dup (p.Gln685fs) rs797045162
NM_000492.4(CFTR):c.206T>G (p.Leu69Arg)
NM_000492.4(CFTR):c.221G>C (p.Arg74Pro)
NM_000492.4(CFTR):c.2335del (p.Gln779fs)
NM_000492.4(CFTR):c.2341C>T (p.Gln781Ter) rs397508368
NM_000492.4(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.4(CFTR):c.2382_2383del (p.Ser795fs)
NM_000492.4(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.4(CFTR):c.241T>C (p.Phe81Leu)
NM_000492.4(CFTR):c.2420T>C (p.Ile807Thr) rs1554389471
NM_000492.4(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.4(CFTR):c.2490+827_2620-3551del
NM_000492.4(CFTR):c.253_255del (p.Gly85del)
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs) rs397508400
NM_000492.4(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs) rs1554390864
NM_000492.4(CFTR):c.2705del (p.Ser902fs)
NM_000492.4(CFTR):c.2739T>G (p.Tyr913Ter)
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter) rs121908751
NM_000492.4(CFTR):c.2855T>G (p.Met952Arg)
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs) rs397508445
NM_000492.4(CFTR):c.2859_2893delinsTCAAG (p.Leu953_Asn965delinsPheGlnAsp)
NM_000492.4(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.4(CFTR):c.288_296del (p.Val97_Pro99del)
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2909-1G>C rs397508456
NM_000492.4(CFTR):c.2909-2A>T
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2991_2993del
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
NM_000492.4(CFTR):c.3101T>C (p.Leu1034Pro)
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr) rs1584821736
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.320C>G (p.Ala107Gly)
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.3259G>C (p.Ala1087Pro) rs771259493
NM_000492.4(CFTR):c.326_327del (p.Ser108_Tyr109insTer) rs121908798
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3293G>T (p.Trp1098Leu)
NM_000492.4(CFTR):c.3294del (p.Trp1098fs) rs397508534
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3322_3323del (p.Val1108fs)
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3389_3402del (p.Gly1130fs)
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3411_3414del (p.Met1137fs)
NM_000492.4(CFTR):c.3430C>T (p.Gln1144Ter) rs397508560
NM_000492.4(CFTR):c.3469-1G>C
NM_000492.4(CFTR):c.3469-1G>T
NM_000492.4(CFTR):c.3469-2A>C
NM_000492.4(CFTR):c.3469-2A>G rs397508570
NM_000492.4(CFTR):c.3469-52_3717+5032dup
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.4(CFTR):c.3525_3537del (p.Thr1176fs)
NM_000492.4(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.4(CFTR):c.3556C>T (p.Gln1186Ter) rs397508582
NM_000492.4(CFTR):c.3602del (p.Asp1201fs)
NM_000492.4(CFTR):c.3717+1G>A rs750558115
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3718-24_3873+601del rs1554395323
NM_000492.4(CFTR):c.3718-3T>G rs397508596
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.4(CFTR):c.3725T>A (p.Leu1242His)
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs) rs121908789
NM_000492.4(CFTR):c.3776G>C (p.Arg1259Thr) rs1470171438
NM_000492.4(CFTR):c.3793G>A (p.Gly1265Arg)
NM_000492.4(CFTR):c.3809A>T (p.Asp1270Val)
NM_000492.4(CFTR):c.3838C>T (p.Gln1280Ter) rs1584837173
NM_000492.4(CFTR):c.3873+2T>C rs146795445
NM_000492.4(CFTR):c.3874-1G>A rs397508624
NM_000492.4(CFTR):c.3883_3886del (p.Ile1295fs) rs387906373
NM_000492.4(CFTR):c.3889del (p.Ser1297fs)
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs) rs121908808
NM_000492.4(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.3908del (p.Asn1303fs) rs397508637
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter) rs193922732
NM_000492.4(CFTR):c.3929G>A (p.Trp1310Ter) rs397508645
NM_000492.4(CFTR):c.3930G>A (p.Trp1310Ter)
NM_000492.4(CFTR):c.3956C>A (p.Ala1319Glu) rs397508649
NM_000492.4(CFTR):c.3964-7A>G
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.4(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs) rs1057516457
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4007_4010del (p.Asp1336fs)
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4111_4113dup (p.Glu1371_Pro1372insGlu)
NM_000492.4(CFTR):c.412_413insACT (p.Leu137_Leu138insHis) rs397508679
NM_000492.4(CFTR):c.4137-23G>A
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.4(CFTR):c.4144C>T (p.Gln1382Ter) rs397508684
NM_000492.4(CFTR):c.4163T>C (p.Leu1388Pro) rs397508688
NM_000492.4(CFTR):c.4197_4198del (p.Leu1399_Cys1400insTer) rs397508693
NM_000492.4(CFTR):c.4220T>C (p.Met1407Thr)
NM_000492.4(CFTR):c.4231C>T (p.Gln1411Ter) rs397508701
NM_000492.4(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.4(CFTR):c.4242+1G>A rs372227120
NM_000492.4(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
NM_000492.4(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.4(CFTR):c.440A>C (p.His147Pro)
NM_000492.4(CFTR):c.4443G>C (p.Ter1481Tyr)
NM_000492.4(CFTR):c.449T>A (p.Met150Lys) rs1562889397
NM_000492.4(CFTR):c.449T>G (p.Met150Arg) rs1562889397
NM_000492.4(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.498del (p.Lys166fs)
NM_000492.4(CFTR):c.49_50del (p.Phe17fs)
NM_000492.4(CFTR):c.50del (p.Phe17fs) rs397508714
NM_000492.4(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.53+1005T>G
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.535C>T (p.Gln179Ter)
NM_000492.4(CFTR):c.54-1161_164+1603del
NM_000492.4(CFTR):c.558del (p.Asn186fs)
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) rs1797976959
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) rs397508778
NM_000492.4(CFTR):c.708del (p.Gln237fs) rs1299250440
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.71T>A (p.Leu24Ter)
NM_000492.4(CFTR):c.722G>A (p.Gly241Glu)
NM_000492.4(CFTR):c.743+1G>A rs397508791
NM_000492.4(CFTR):c.744-2A>G rs1057516646
NM_000492.4(CFTR):c.748C>T (p.Gln250Ter)
NM_000492.4(CFTR):c.777del (p.Leu259_Val260insTer)
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.4(CFTR):c.869+5G>C
NM_000492.4(CFTR):c.874_875del (p.Glu292fs) rs1799022949
NM_000492.4(CFTR):c.948del (p.Phe316fs) rs75528968
NM_000492.4(CFTR):c.972del (p.Tyr325fs)
NM_000492.4(CFTR):c.97G>T (p.Glu33Ter)
NM_000492.4:c.(1209+1_1210-1)_(1392+1_1393-1)del
NM_000492.4:c.(1392+1_1393-1)_(1584+1_1585-1)del
NM_000492.4:c.(1766+1_1767-1)_(2619+1_2620-1)del
NM_000492.4:c.(2619+1_2620-1)_(3367+1_3368-1)del
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)del
NM_000492.4:c.(273+1_274-1)_(1209+1_1210-1)dup
NM_000492.4:c.(273+1_274-1)_(1392+1_1393-1)dup
NM_000492.4:c.(273+1_274-1)_(1584+1_1585-1)del
NM_000492.4:c.(273+1_274-1)_(1679+1_1680-1)del
NM_000492.4:c.(2908+1_2909-1)_(3139+1_3140-1)dup
NM_000492.4:c.(2908+1_2909-1)_(4242+1_4243-1)del
NM_000492.4:c.(2988+1_2989-1)_(3367+1_3368-1)del
NM_000492.4:c.(2988+1_2989-1)_(3468+1_3469-1)del
NM_000492.4:c.(3139+1_3140-1)_(3367+1_3368-1)del
NM_000492.4:c.(3428+1_3469-1)_(3717+1_3718-1)dup
NM_000492.4:c.(3468+1_3469-1)_(3717+1_3718-1)del
NM_000492.4:c.(3468+1_3469-1)_(3873+1_3874-1)del
NM_000492.4:c.(3468+1_3469-1)_(3963+1_3964-1)del
NM_000492.4:c.(3873+1_3874-1)_(3963+1_3964-1)del
NM_000492.4:c.(3963+1_3964-1)_(*1_?)del
NM_000492.4:c.(4136+1_4137-1)_(4242+1_4243-1)del
NM_000492.4:c.(53+1_54-1)_(1209+1_1210+1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)del
NM_000492.4:c.(53+1_54-1)_(164+1_165-1)delins186
NM_000492.4:c.(743+1_744-1)_(1584+1_1585-1)dup
NM_000492.4:c.(?_-1)_(*1_?)del
NM_000492.4:c.53+9713_1392+2669del
NM_000553.6(WRN):c.3030_3033del (p.Thr1011fs) rs748860208
NM_000784.4(CYP27A1):c.1297dup (p.Arg433fs)
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) rs771819245
NM_001013838.3(CARMIL2):c.958+1G>C rs1567628294
NM_001039958.2(MESP2):c.49del (p.Ile17fs)
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del) rs2038007278
NM_001048166.1(STIL):c.66del (p.Pro23fs) rs1645910850
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) rs147875659
NM_001083961.2(WDR62):c.1669C>T (p.Arg557Trp)
NM_001083961.2(WDR62):c.2035-2A>G
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083961.2(WDR62):c.4312-1G>C rs1973640822
NM_001098484.3(SLC4A4):c.1170G>C (p.Arg390Ser)
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs) rs1203487591
NM_001136035.4(TRMT1):c.312del (p.Lys105fs) rs2019321826
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1799G>A (p.Arg600Gln) rs1333287390
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001171.6(ABCC6):c.4209-2A>C rs1555506740
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=) rs1671904168
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs) rs1671915447
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) rs775362535
NM_001510.4(GRID2):c.1945A>G (p.Thr649Ala)
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
NM_001510.4:c.1246-278_2193+35240del
NM_001510.4:c.790-271_1245+268del
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003052.5(SLC34A1):c.644+5G>A
NM_003104.6(SORD):c.50C>T (p.Pro17Leu)
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003937.3(KYNU):c.865T>C (p.Phe289Leu)
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004086.3(COCH):c.366_371del (p.Val123_Thr124del)
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) rs1794473050
NM_005645.4(TAF13):c.119T>A (p.Met40Lys) rs1060505029
NM_005645.4(TAF13):c.92T>A (p.Leu31His) rs1060505030
NM_005807.6(PRG4):c.3735_3736insAG (p.Ala1246fs) rs1657235121
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_005881.4(BCKDK):c.50_71del (p.Leu17fs) rs2143936992
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser) rs1295611134
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006828.4(ASCC3):c.1597-2A>G
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
NM_012205.3(HAAO):c.431T>C (p.Ile144Thr)
NM_012205.3(HAAO):c.524G>C (p.Arg175Pro)
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) rs2080321538
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp) rs780465961
NM_014363.6(SACS):c.5151dup (p.Ser1718fs) rs754439135
NM_014363.6(SACS):c.5621T>C (p.Leu1874Ser) rs1868847058
NM_014363.6(SACS):c.7697A>G (p.Asp2566Gly) rs1868573738
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val) rs1348647519
NM_015378.4(VPS13D):c.3353C>T (p.Thr1118Met) rs1436479178
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
NM_016302.4(CRBN):c.835+1G>A rs1226252969
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs) rs1971392241
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs) rs1423002835
NM_020247.5(COQ8A):c.1805C>G (p.Pro602Arg) rs61995958
NM_022095.4(ZNF335):c.1665+61G>A rs2083829211
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) rs2133006702
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) rs557166582
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024298.5(MBOAT7):c.423del (p.Leu142fs) rs886041059
NM_024596.5(MCPH1):c.23-1G>C rs1269068071
NM_024989.4(PGAP1):c.1501-2A>G rs1288514578
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del) rs587777378
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6135+1G>A rs2035114607
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297
NM_031475.3(ESPN):c.1916-1G>C rs1643944047
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val) rs2049968647
NM_138694.3:c.(?_5909)_(12225_?)del
NM_138694.4(PKHD1):c.10073A>G (p.Asp3358Gly)
NM_138694.4(PKHD1):c.9148G>T (p.Gly3050Cys)
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter) rs375570541
NM_170707.4(LMNA):c.937-3C>A rs756694090
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) rs1834431706
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) rs1834431047
NM_176824.3(BBS7):c.497C>T (p.Ala166Val) rs1341540567
NM_178172.6(GPIHBP1):c.422G>A (p.Trp141Ter) rs1284611659
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4]) rs782811601
NM_201384.3(PLEC):c.815T>C (p.Val272Ala) rs1554721734
NM_206933.4(USH2A):c.1841-377A>G
NM_206933.4(USH2A):c.4409del (p.Leu1470fs)
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6845T>G (p.Leu2282Ter) rs2102458475
NM_206933.4(USH2A):c.8141G>A (p.Trp2714Ter)
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter) rs1553250952
NM_206933.4(USH2A):c.9519_9520delinsAA (p.Cys3173_Gln3174delinsTer) rs2102796345
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NR_003051.4(RMRP):n.120A>G

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.