ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Revvity Omics, Revvity

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858 0.00092
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
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_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577 0.00033
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860 0.00025
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000277.3(PAH):c.143T>C (p.Leu48Ser) rs5030841 0.00020
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) rs141458677 0.00019
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs) rs397515338 0.00019
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) rs143141689 0.00016
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter) rs137852994 0.00015
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650 0.00011
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499 0.00011
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu) rs543206298 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs) rs746838237 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698 0.00009
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856 0.00008
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile) rs180819807 0.00007
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784 0.00007
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter) rs121918548 0.00007
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs) rs747831095 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_000277.3(PAH):c.1162G>A (p.Val388Met) rs62516101 0.00005
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs) rs398124502 0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter) rs80356595 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.472C>T (p.Arg158Trp) rs75166491 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000277.3(PAH):c.964G>A (p.Ala322Thr) rs62514957 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_021942.6(TRAPPC11):c.2579del (p.Leu860fs) rs1216637259 0.00004
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.60+5G>T rs62514895 0.00003
NM_000277.3(PAH):c.745C>T (p.Leu249Phe) rs74503222 0.00003
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs) rs775267638 0.00003
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_015665.6(AAAS):c.1331+1G>A rs150511103 0.00003
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys) rs121918549 0.00003
NM_138694.4(PKHD1):c.10637del (p.Val3546fs) rs770461067 0.00003
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483 0.00003
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000271.5(NPC1):c.2780C>T (p.Ala927Val) rs753768576 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
NM_001205254.2(OCLN):c.106C>T (p.Arg36Ter) rs373915080 0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A rs889110926 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter) rs587783227 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter) rs186964660 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 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_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135 0.00001
NM_000277.3(PAH):c.169-2A>G rs1226613045 0.00001
NM_000277.3(PAH):c.441+1G>A rs62517166 0.00001
NM_000277.3(PAH):c.441+5G>T rs62507321 0.00001
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336 0.00001
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp) rs78655458 0.00001
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936 0.00001
NM_000317.3(PTS):c.155A>G (p.Asn52Ser) rs104894275 0.00001
NM_000317.3(PTS):c.200C>T (p.Thr67Met) rs370340361 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.446+1G>A rs587778797 0.00001
NM_001042472.3(ABHD12):c.867+2C>T rs1437849678 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter) rs773087549 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs) rs1478013002 0.00001
NM_001378609.3(OTOGL):c.2391-2A>G rs374272301 0.00001
NM_001692.4(ATP6V1B1):c.1248+1G>C rs1553420702 0.00001
NM_001983.4(ERCC1):c.121C>T (p.Arg41Ter) rs867518898 0.00001
NM_003573.2(LTBP4):c.76-1G>A rs781735457 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_015702.3(MMADHC):c.154+1G>A rs1385597423 0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter) rs768257384 0.00001
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter) rs1330631412 0.00001
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter) rs201430235 0.00001
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) rs751326753 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter) rs587777626 0.00001
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter) rs1460031293 0.00001
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089 0.00001
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986 0.00001
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter) rs137852947 0.00001
NM_138694.4(PKHD1):c.8554+1G>A rs1790925351 0.00001
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter) rs374049779 0.00001
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs) rs1565297723
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg) rs541517496
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) rs1572278166
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.352_353del (p.Gln119fs) rs759075595
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.168_168+1delinsAA rs786204457
NM_000277.3(PAH):c.208_210del (p.Ser70del) rs62642094
NM_000277.3(PAH):c.509+1G>A rs63102461
NM_000277.3(PAH):c.510T>G (p.His170Gln) rs199475652
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.671T>C (p.Ile224Thr) rs62507323
NM_000277.3(PAH):c.722G>A (p.Arg241His) rs62508730
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000382.3(ALDH3A2):c.1187_1188del (p.Ser396fs)
NM_000382.3(ALDH3A2):c.639_640del (p.Cys214fs)
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.3244_3245del (p.Val1082fs) rs770947623
NM_000553.6(WRN):c.3688-2A>G rs2130469632
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del) rs777676129
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) rs1163340926
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs) rs745340459
NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter) rs1344296865
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter) rs868586681
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs) rs2145516989
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.2034del (p.Ser679fs)
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001205254.2(OCLN):c.513C>A (p.Tyr171Ter) rs1390469424
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs) rs2134009776
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs) rs778222536
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter) rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs) rs2134088808
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs) rs1416960576
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs) rs2104105065
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs) rs2104194220
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter) rs2138034575
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) rs1821344202
NM_001382391.1(CSPP1):c.2538+1G>T rs2129560295
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs) rs1555683951
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) rs797044907
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg) rs781838938
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs) rs781969081
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro) rs121964880
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs) rs1679840658
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003292.3(TPR):c.*1130G>C rs1657377652
NM_004153.4(ORC1):c.403-2A>C rs2147941262
NM_005807.6(PRG4):c.1935del (p.Glu646fs) rs2102025845
NM_005807.6(PRG4):c.3486dup (p.Val1163fs) rs2102031816
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs) rs1259615333
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter) rs1246013998
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs) rs2137615500
NM_014363.6(SACS):c.7110C>G (p.Tyr2370Ter) rs1555251553
NM_015294.6(TRIM37):c.447del (p.Lys149fs) rs1197523487
NM_015311.3(OBSL1):c.1359dup (p.Glu454fs)
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter) rs1944347921
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs) rs2118980242
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs) rs878853239
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs) rs2142326062
NM_016529.6(ATP8A2):c.2212-1G>C rs2137911082
NM_016614.3(TDP2):c.650del (p.Gly217fs) rs1778000792
NM_017433.5(MYO3A):c.4587-1G>A rs1311980539
NM_017721.5(CC2D1A):c.1764+1G>C rs2145350143
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter) rs145489194
NM_018136.5(ASPM):c.2581dup (p.Ile861fs) rs2125107857
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter) rs199422153
NM_018136.5(ASPM):c.434del (p.Lys145fs) rs2125114846
NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs) rs2125096622
NM_018136.5(ASPM):c.5681_5685del (p.Ile1894fs) rs886041282
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs)
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs) rs199422196
NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) rs2125087894
NM_018249.6(CDK5RAP2):c.3545_3546del (p.His1182fs) rs2131327802
NM_018249.6(CDK5RAP2):c.355G>T (p.Glu119Ter) rs376990082
NM_018294.6(CWF19L1):c.520A>T (p.Lys174Ter) rs2134307362
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs) rs797045217
NM_020632.3(ATP6V0A4):c.1872C>A (p.Tyr624Ter) rs1464966535
NM_020632.3(ATP6V0A4):c.292-1G>A rs776867749
NM_020680.4(SCYL1):c.1386+1G>T rs201581270
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) rs2151838171
NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter) rs2134250333
NM_021942.6(TRAPPC11):c.1893+3A>G rs886041053
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
NM_024596.5(MCPH1):c.566dup (p.Asn189fs) rs753597039
NM_024649.5(BBS1):c.47+1G>T rs1475257145
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_025074.7(FRAS1):c.2692del (p.His898fs) rs2110296712
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs) rs2139308896
NM_031466.8(TRAPPC9):c.-124dup rs765943218
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_033028.5(BBS4):c.1248+1G>T rs1419924139
NM_033028.5(BBS4):c.1311_1312insT (p.Lys438Ter)
NM_033028.5(BBS4):c.157-2A>G rs113994192
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter) rs755183117
NM_138694.4(PKHD1):c.3561-1G>A rs1802457333
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs) rs398124486
NM_138694.4(PKHD1):c.470dup (p.Trp158fs) rs2128233941
NM_138694.4(PKHD1):c.4993C>T (p.Gln1665Ter) rs2128141956
NM_138694.4(PKHD1):c.8069G>A (p.Trp2690Ter) rs768660365
NM_138694.4(PKHD1):c.8208del (p.Trp2736fs) rs2151512076
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.683del (p.Gln228fs) rs2150736424
NM_152618.3(BBS12):c.695_731del (p.Ile232fs)
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter) rs1410072763
NM_173477.5(USH1G):c.711del (p.Arg238fs) rs2144754031
NM_176824.3(BBS7):c.712_715del (p.Arg238fs) rs760165634
NM_177400.3(NKX6-2):c.119del (p.Phe40fs) rs2134707158
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_203486.3(DLL3):c.395del (p.Gly132fs) rs761454301
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs) rs786200899

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.