ClinVar Miner

List of variants reported as uncertain significance for congenital stationary night blindness

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 607
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HGVS dbSNP gnomAD frequency
NM_145200.5(CABP4):c.*1873C>T rs867214951 0.12553
NM_001004334.4(GPR179):c.*824G>A rs191828655 0.00537
NM_145200.5(CABP4):c.*1636A>G rs532435181 0.00479
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_145200.5(CABP4):c.*2709G>A rs189502443 0.00380
NM_001004334.4(GPR179):c.*554C>T rs138942149 0.00319
NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg) rs146253044 0.00270
NM_198506.5(LRIT3):c.222G>A (p.Ala74=) rs148450929 0.00264
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_144499.3(GNAT1):c.*551C>T rs116031664 0.00179
NM_145200.5(CABP4):c.*2668G>A rs116414393 0.00171
NM_145200.5(CABP4):c.-27G>A rs192302421 0.00167
NM_004727.3(SLC24A1):c.*721G>A rs549899114 0.00160
NM_001252024.2(TRPM1):c.600A>G (p.Glu200=) rs200934141 0.00157
NM_145200.5(CABP4):c.*1117C>A rs565802060 0.00137
NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val) rs192426710 0.00128
NM_145200.5(CABP4):c.*1190T>C rs7127024 0.00126
NM_145200.5(CABP4):c.*1291A>G rs146149609 0.00124
NM_001378477.3(NYX):c.*103G>A rs750048192 0.00105
NM_000539.3(RHO):c.*1455T>C rs552362456 0.00096
NM_001004334.4(GPR179):c.2895G>A (p.Leu965=) rs200583958 0.00096
NM_000539.3(RHO):c.*1599G>A rs576980794 0.00086
NM_198506.5(LRIT3):c.1273A>C (p.Thr425Pro) rs138218384 0.00086
NM_001004334.4(GPR179):c.5868C>T (p.Ser1956=) rs202228440 0.00082
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_145200.5(CABP4):c.*3043C>T rs571674945 0.00080
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=) rs181942192 0.00072
NM_001004334.4(GPR179):c.976G>A (p.Ala326Thr) rs201963254 0.00067
NM_001004334.4(GPR179):c.991+4T>C rs375898051 0.00067
NM_145200.5(CABP4):c.*683A>G rs146218513 0.00066
NM_004727.3(SLC24A1):c.*1699T>C rs772057151 0.00065
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_198506.5(LRIT3):c.583A>G (p.Ile195Val) rs182054858 0.00063
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_001004334.4(GPR179):c.5416G>A (p.Ala1806Thr) rs201654499 0.00054
NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg) rs200392643 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_145200.5(CABP4):c.*681A>G rs543961015 0.00053
NM_145200.5(CABP4):c.*702C>T rs574323434 0.00051
NM_145200.5(CABP4):c.522G>A (p.Ser174=) rs143344989 0.00051
NM_004727.3(SLC24A1):c.*2041C>T rs138458275 0.00050
NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu) rs181844178 0.00049
NM_145200.5(CABP4):c.651+15G>A rs199749736 0.00049
NM_001252024.2(TRPM1):c.*664A>G rs573027667 0.00048
NM_001252024.2(TRPM1):c.*229G>A rs543341268 0.00047
NM_000539.3(RHO):c.*948T>C rs529674071 0.00046
NM_001252024.2(TRPM1):c.4308C>A (p.Pro1436=) rs138216783 0.00045
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) rs201943537 0.00045
NM_001252024.2(TRPM1):c.551G>A (p.Arg184Gln) rs188852505 0.00044
NM_001378477.3(NYX):c.-57+46T>C rs777981530 0.00044
NM_145200.5(CABP4):c.*1223G>A rs555941085 0.00044
NM_001004334.4(GPR179):c.1723C>T (p.Arg575Cys) rs200801090 0.00043
NM_001004334.4(GPR179):c.691C>T (p.Pro231Ser) rs200731095 0.00043
NM_000539.3(RHO):c.*1179T>C rs569761830 0.00042
NM_004727.3(SLC24A1):c.*40C>A rs371028086 0.00042
NM_000539.3(RHO):c.*741T>C rs753496233 0.00041
NM_004727.3(SLC24A1):c.3058G>A (p.Val1020Ile) rs375878760 0.00041
NM_001378477.3(NYX):c.*383G>T rs148699627 0.00040
NM_001004334.4(GPR179):c.1533C>T (p.Gly511=) rs200421731 0.00039
NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) rs202245263 0.00036
NM_001004334.4(GPR179):c.3752C>T (p.Ser1251Leu) rs368643450 0.00034
NM_144499.3(GNAT1):c.*1274G>A rs891084737 0.00034
NM_198506.5(LRIT3):c.*1157T>C rs572997541 0.00034
NM_001252024.2(TRPM1):c.2877C>T (p.Phe959=) rs370822722 0.00033
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) rs117105175 0.00033
NM_004727.3(SLC24A1):c.*1628C>A rs983795023 0.00033
NM_001252024.2(TRPM1):c.1795-8C>G rs183856964 0.00032
NM_144499.3(GNAT1):c.*1369G>T rs563891409 0.00032
NM_001004334.4(GPR179):c.5927G>A (p.Arg1976His) rs200274687 0.00031
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001252024.2(TRPM1):c.*482A>G rs188493932 0.00029
NM_001252024.2(TRPM1):c.3919G>A (p.Glu1307Lys) rs200906550 0.00029
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00029
NM_144499.3(GNAT1):c.*1954C>T rs377634380 0.00029
NM_145200.5(CABP4):c.10G>C (p.Glu4Gln) rs143494300 0.00029
NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs) rs779266036 0.00028
NM_145200.5(CABP4):c.309C>T (p.Ser103=) rs555315887 0.00028
NM_145200.5(CABP4):c.318C>T (p.Asp106=) rs375330570 0.00028
NM_001252024.2(TRPM1):c.1089C>T (p.Leu363=) rs202130526 0.00027
NM_004727.3(SLC24A1):c.1891-6T>C rs372058206 0.00027
NM_145200.5(CABP4):c.*1158A>G rs539741322 0.00027
NM_001252024.2(TRPM1):c.2496A>G (p.Lys832=) rs34915313 0.00026
NM_001252024.2(TRPM1):c.30C>T (p.Thr10=) rs180878088 0.00026
NM_144499.3(GNAT1):c.*5C>T rs554301590 0.00026
NM_001004334.4(GPR179):c.989G>T (p.Gly330Val) rs372908857 0.00025
NM_145200.5(CABP4):c.*1040C>A rs186530202 0.00025
NM_000283.4(PDE6B):c.*545T>C rs149186081 0.00024
NM_001252024.2(TRPM1):c.3970T>C (p.Cys1324Arg) rs201888584 0.00024
NM_004727.3(SLC24A1):c.*809G>A rs755760960 0.00024
NM_145200.5(CABP4):c.214A>C (p.Asn72His) rs143788427 0.00024
NM_000283.4(PDE6B):c.*271G>A rs552530901 0.00023
NM_001252024.2(TRPM1):c.3294-15G>A rs376352901 0.00023
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met) rs143585840 0.00021
NM_001004334.4(GPR179):c.*453C>T rs539092082 0.00021
NM_001004334.4(GPR179):c.3900A>T (p.Ile1300=) rs200167781 0.00021
NM_001252024.2(TRPM1):c.795G>C (p.Leu265=) rs371394864 0.00021
NM_198506.5(LRIT3):c.*1038C>T rs182511132 0.00021
NM_198506.5(LRIT3):c.1029G>T (p.Val343=) rs199943498 0.00021
NM_198506.5(LRIT3):c.30C>A (p.Val10=) rs373793629 0.00021
NM_000539.3(RHO):c.630C>T (p.Val210=) rs371192803 0.00020
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_001004334.4(GPR179):c.*454G>A rs138028812 0.00019
NM_001004334.4(GPR179):c.3508C>T (p.Arg1170Trp) rs201856624 0.00019
NM_001004334.4(GPR179):c.5606A>C (p.Gln1869Pro) rs201516786 0.00019
NM_198506.5(LRIT3):c.*626G>A rs550462658 0.00019
NM_198506.5(LRIT3):c.1046C>T (p.Thr349Ile) rs199662798 0.00019
NM_000541.5(SAG):c.1132G>A (p.Val378Ile) rs200602069 0.00018
NM_001252024.2(TRPM1):c.3252C>T (p.Val1084=) rs773508261 0.00018
NM_001252024.2(TRPM1):c.4367C>G (p.Thr1456Arg) rs61734297 0.00018
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys) rs199697891 0.00017
NM_001252024.2(TRPM1):c.1602G>A (p.Leu534=) rs368601558 0.00017
NM_001252024.2(TRPM1):c.2460C>G (p.Gly820=) rs185129255 0.00017
NM_001004334.4(GPR179):c.3568C>T (p.Arg1190Trp) rs200978744 0.00016
NM_001004334.4(GPR179):c.5859G>A (p.Glu1953=) rs370586289 0.00016
NM_001252024.2(TRPM1):c.2440-12T>A rs200151910 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_145200.5(CABP4):c.*394T>A rs1047325440 0.00016
NM_198506.5(LRIT3):c.1307T>C (p.Met436Thr) rs371356043 0.00016
NM_000283.4(PDE6B):c.1920+4G>A rs370313003 0.00015
NM_000539.3(RHO):c.310G>A (p.Val104Ile) rs144317206 0.00015
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) rs376750375 0.00014
NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val) rs542057732 0.00014
NM_001252024.2(TRPM1):c.*228C>T rs544752312 0.00014
NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln) rs376234885 0.00014
NM_004727.3(SLC24A1):c.1542C>T (p.Ile514=) rs372658740 0.00014
NM_004727.3(SLC24A1):c.309A>G (p.Thr103=) rs375495390 0.00014
NM_145200.5(CABP4):c.*1413C>T rs563724143 0.00014
NM_198506.5(LRIT3):c.*1108A>G rs749828551 0.00014
NM_198506.5(LRIT3):c.1644G>A (p.Gly548=) rs528069315 0.00014
NM_000539.3(RHO):c.*1255T>C rs774496991 0.00013
NM_001004334.4(GPR179):c.1784+8C>T rs137860025 0.00013
NM_001004334.4(GPR179):c.3145G>A (p.Ala1049Thr) rs188307315 0.00013
NM_004727.3(SLC24A1):c.-73A>G rs886051346 0.00013
NM_000843.4(GRM6):c.1537G>A (p.Val513Met) rs201396068 0.00012
NM_001252024.2(TRPM1):c.4781A>G (p.His1594Arg) rs200626726 0.00011
NM_004727.3(SLC24A1):c.1925A>G (p.Gln642Arg) rs376244274 0.00011
NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=) rs368057501 0.00011
NM_145200.5(CABP4):c.*2004G>T rs570209950 0.00011
NM_145200.5(CABP4):c.*2836C>T rs145684543 0.00011
NM_145200.5(CABP4):c.*2860A>T rs148932555 0.00011
NM_198506.5(LRIT3):c.*1322T>C rs146584985 0.00011
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe) rs61749664 0.00010
NM_000283.4(PDE6B):c.*309T>A rs559243245 0.00010
NM_000283.4(PDE6B):c.*504A>G rs886059550 0.00010
NM_001004334.4(GPR179):c.2248T>A (p.Ser750Thr) rs772088402 0.00010
NM_001004334.4(GPR179):c.3348C>T (p.Ser1116=) rs78284900 0.00010
NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr) rs117255299 0.00010
NM_004727.3(SLC24A1):c.*2083C>T rs886051360 0.00010
NM_004727.3(SLC24A1):c.-161G>A rs886051345 0.00010
NM_144499.3(GNAT1):c.*728C>T rs774324843 0.00010
NM_145200.5(CABP4):c.*1390C>T rs564944745 0.00010
NM_001004334.4(GPR179):c.4459G>A (p.Val1487Met) rs187514572 0.00009
NM_001004334.4(GPR179):c.5382G>A (p.Met1794Ile) rs199726938 0.00009
NM_001004334.4(GPR179):c.5905G>A (p.Val1969Ile) rs144104172 0.00009
NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala) rs779538393 0.00009
NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln) rs201549936 0.00009
NM_144499.3(GNAT1):c.*903G>A rs912176233 0.00009
NM_145200.5(CABP4):c.398-8C>T rs372275562 0.00009
NM_000539.3(RHO):c.399C>A (p.Ile133=) rs372812523 0.00008
NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln) rs568763662 0.00008
NM_001004334.4(GPR179):c.3383G>A (p.Arg1128Gln) rs370214602 0.00008
NM_001252024.2(TRPM1):c.2088-8C>T rs762208610 0.00008
NM_001252024.2(TRPM1):c.4755T>C (p.Ile1585=) rs201668928 0.00008
NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val) rs375420645 0.00008
NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser) rs370617242 0.00008
NM_145200.5(CABP4):c.*2000A>G rs927120262 0.00008
NM_198506.5(LRIT3):c.*1191T>C rs574005997 0.00008
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) rs761281062 0.00007
NM_000541.5(SAG):c.682G>A (p.Val228Met) rs377019945 0.00007
NM_001004334.4(GPR179):c.4047G>A (p.Ala1349=) rs201461684 0.00007
NM_001252024.2(TRPM1):c.2514C>T (p.Ile838=) rs376705938 0.00007
NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=) rs370122578 0.00007
NM_001256789.3(CACNA1F):c.1936G>A (p.Ala646Thr) rs986816548 0.00007
NM_004727.3(SLC24A1):c.1890+6G>A rs375850066 0.00007
NM_004727.3(SLC24A1):c.1945-14C>G rs761704353 0.00007
NM_004727.3(SLC24A1):c.2884-9G>A rs374590721 0.00007
NM_144499.3(GNAT1):c.882C>T (p.Asp294=) rs775329814 0.00007
NM_145200.5(CABP4):c.*1527C>T rs547246461 0.00007
NM_145200.5(CABP4):c.816C>T (p.Leu272=) rs371952355 0.00007
NM_000283.4(PDE6B):c.*611G>A rs1374125665 0.00006
NM_000539.3(RHO):c.*551G>A rs933661466 0.00006
NM_001004334.4(GPR179):c.1217G>A (p.Arg406His) rs770208418 0.00006
NM_001004334.4(GPR179):c.2809G>A (p.Val937Ile) rs765764314 0.00006
NM_001004334.4(GPR179):c.3400C>T (p.Arg1134Trp) rs376874534 0.00006
NM_001004334.4(GPR179):c.3806C>T (p.Thr1269Met) rs754266923 0.00006
NM_001004334.4(GPR179):c.4188A>G (p.Gln1396=) rs201368251 0.00006
NM_001004334.4(GPR179):c.4739C>T (p.Pro1580Leu) rs778263955 0.00006
NM_001004334.4(GPR179):c.983C>T (p.Pro328Leu) rs370808770 0.00006
NM_001252024.2(TRPM1):c.2246C>G (p.Thr749Ser) rs371356729 0.00006
NM_001252024.2(TRPM1):c.2285G>C (p.Arg762Thr) rs199546092 0.00006
NM_001252024.2(TRPM1):c.2888G>A (p.Arg963His) rs771644561 0.00006
NM_001256789.3(CACNA1F):c.4886A>C (p.Glu1629Ala) rs376524533 0.00006
NM_001378477.3(NYX):c.*140G>A rs1011570912 0.00006
NM_004727.3(SLC24A1):c.175C>G (p.Pro59Ala) rs533092441 0.00006
NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=) rs368241269 0.00006
NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=) rs201199381 0.00006
NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe) rs755508009 0.00006
NM_198506.5(LRIT3):c.327G>A (p.Glu109=) rs992042707 0.00006
NM_198506.5(LRIT3):c.492A>G (p.Arg164=) rs890325688 0.00006
NM_198506.5(LRIT3):c.919G>A (p.Gly307Arg) rs145061437 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000283.3(PDE6B):c.*797G>A rs1463865281 0.00005
NM_000539.3(RHO):c.*285G>A rs1487459358 0.00005
NM_000539.3(RHO):c.697-11G>A rs367631575 0.00005
NM_001004334.4(GPR179):c.1441C>T (p.Arg481Trp) rs374449680 0.00005
NM_001004334.4(GPR179):c.3411G>A (p.Ala1137=) rs539071271 0.00005
NM_001004334.4(GPR179):c.522C>T (p.Ile174=) rs377062748 0.00005
NM_001252024.2(TRPM1):c.1890C>T (p.Phe630=) rs369315253 0.00005
NM_001378477.3(NYX):c.-57+99T>C rs945750526 0.00005
NM_001378477.3(NYX):c.368C>T (p.Ala123Val) rs778437203 0.00005
NM_004727.3(SLC24A1):c.1911G>A (p.Ala637=) rs372995067 0.00005
NM_145200.5(CABP4):c.69G>A (p.Ala23=) rs775292545 0.00005
NM_000283.4(PDE6B):c.*381C>T rs1023673457 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met) rs752852029 0.00004
NM_000283.4(PDE6B):c.789G>A (p.Thr263=) rs138789637 0.00004
NM_001004334.4(GPR179):c.1589G>A (p.Ser530Asn) rs371905233 0.00004
NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=) rs368426715 0.00004
NM_001252024.2(TRPM1):c.-101A>G rs574197357 0.00004
NM_001252024.2(TRPM1):c.1905C>T (p.His635=) rs377099385 0.00004
NM_001252024.2(TRPM1):c.2169C>T (p.Tyr723=) rs370305789 0.00004
NM_001252024.2(TRPM1):c.2542G>A (p.Ala848Thr) rs376766834 0.00004
NM_001252024.2(TRPM1):c.602A>T (p.Asp201Val) rs761283836 0.00004
NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn) rs376042913 0.00004
NM_004727.3(SLC24A1):c.*1608C>T rs886051358 0.00004
NM_004727.3(SLC24A1):c.2166G>A (p.Ala722=) rs565350549 0.00004
NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=) rs886051351 0.00004
NM_004727.3(SLC24A1):c.2917A>G (p.Met973Val) rs201810804 0.00004
NM_144499.3(GNAT1):c.*2046G>C rs942292553 0.00004
NM_144499.3(GNAT1):c.*2267C>T rs886058693 0.00004
NM_144499.3(GNAT1):c.773C>T (p.Thr258Met) rs769077570 0.00004
NM_145200.5(CABP4):c.*1510T>C rs1303691994 0.00004
NM_198506.5(LRIT3):c.1238C>T (p.Ser413Phe) rs770968977 0.00004
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys) rs746783836 0.00003
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp) rs752303143 0.00003
NM_000539.3(RHO):c.*115G>A rs886057969 0.00003
NM_000539.3(RHO):c.*1294A>G rs1047324551 0.00003
NM_000539.3(RHO):c.*440C>G rs886057971 0.00003
NM_000539.3(RHO):c.440G>A (p.Arg147His) rs746468201 0.00003
NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu) rs759761288 0.00003
NM_001004334.4(GPR179):c.*304A>G rs541537671 0.00003
NM_001004334.4(GPR179):c.*522C>T rs147084359 0.00003
NM_001004334.4(GPR179):c.131C>A (p.Pro44Gln) rs376962885 0.00003
NM_001004334.4(GPR179):c.1466G>A (p.Arg489Gln) rs551972571 0.00003
NM_001004334.4(GPR179):c.2332C>T (p.Arg778Cys) rs759512521 0.00003
NM_001004334.4(GPR179):c.2348C>T (p.Pro783Leu) rs200492514 0.00003
NM_001004334.4(GPR179):c.5774T>G (p.Phe1925Cys) rs770905475 0.00003
NM_001004334.4(GPR179):c.6351G>A (p.Trp2117Ter) rs766582295 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001252024.2(TRPM1):c.-143G>C rs995949757 0.00003
NM_001252024.2(TRPM1):c.3191T>G (p.Leu1064Arg) rs200561247 0.00003
NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu) rs577672274 0.00003
NM_001378477.3(NYX):c.-56-45T>G rs755997910 0.00003
NM_001378477.3(NYX):c.787C>G (p.Arg263Gly) rs375834225 0.00003
NM_004727.3(SLC24A1):c.*1474A>G rs886051357 0.00003
NM_004727.3(SLC24A1):c.*2027G>A rs886051359 0.00003
NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile) rs536096021 0.00003
NM_004727.3(SLC24A1):c.2794-11C>A rs879718216 0.00003
NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile) rs746176031 0.00003
NM_144499.3(GNAT1):c.*1379G>A rs886058689 0.00003
NM_144499.3(GNAT1):c.*1991G>A rs886058690 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_145200.5(CABP4):c.*1939A>G rs886048574 0.00003
NM_145200.5(CABP4):c.*2089T>C rs886048576 0.00003
NM_145200.5(CABP4):c.*2187G>C rs886048579 0.00003
NM_198506.5(LRIT3):c.733C>T (p.Arg245Trp) rs538101562 0.00003
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.258C>T (p.Leu86=) rs886059520 0.00002
NM_000283.4(PDE6B):c.297G>A (p.Gln99=) rs768652560 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.316C>T (p.Leu106=) rs752429712 0.00002
NM_000283.4(PDE6B):c.469-5G>A rs530695084 0.00002
NM_000326.5(RLBP1):c.362G>A (p.Arg121Gln) rs139108078 0.00002
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) rs761101263 0.00002
NM_001004334.4(GPR179):c.2150G>A (p.Arg717His) rs757722345 0.00002
NM_001004334.4(GPR179):c.2581G>A (p.Glu861Lys) rs756212907 0.00002
NM_001004334.4(GPR179):c.274C>A (p.Pro92Thr) rs1331610447 0.00002
NM_001004334.4(GPR179):c.3442G>A (p.Asp1148Asn) rs202183326 0.00002
NM_001004334.4(GPR179):c.4180C>G (p.Pro1394Ala) rs371158139 0.00002
NM_001004334.4(GPR179):c.4555G>A (p.Glu1519Lys) rs201569873 0.00002
NM_001004334.4(GPR179):c.5627G>C (p.Trp1876Ser) rs1290248528 0.00002
NM_001004334.4(GPR179):c.663G>T (p.Val221=) rs547308706 0.00002
NM_001252024.2(TRPM1):c.1764G>C (p.Arg588Ser) rs779709494 0.00002
NM_001252024.2(TRPM1):c.2778C>T (p.Leu926=) rs761531039 0.00002
NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys) rs561717036 0.00002
NM_001252024.2(TRPM1):c.942G>A (p.Ala314=) rs768420045 0.00002
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001378477.3(NYX):c.*744C>T rs780639009 0.00002
NM_004727.3(SLC24A1):c.*295G>A rs886051353 0.00002
NM_004727.3(SLC24A1):c.1287C>T (p.Pro429=) rs769956786 0.00002
NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=) rs372137068 0.00002
NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys) rs532808985 0.00002
NM_004727.3(SLC24A1):c.3051-9A>G rs774208027 0.00002
NM_004727.3(SLC24A1):c.3179C>T (p.Ala1060Val) rs760183851 0.00002
NM_144499.3(GNAT1):c.165C>T (p.Asp55=) rs776566245 0.00002
NM_145200.5(CABP4):c.*1063G>A rs191030743 0.00002
NM_145200.5(CABP4):c.*2098C>T rs886048577 0.00002
NM_145200.5(CABP4):c.*26C>T rs747352890 0.00002
NM_145200.5(CABP4):c.*2958T>C rs936395339 0.00002
NM_145200.5(CABP4):c.230G>C (p.Gly77Ala) rs748865845 0.00002
NM_198506.5(LRIT3):c.332G>A (p.Arg111His) rs867751556 0.00002
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val) rs753430531 0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn) rs755464893 0.00001
NM_000283.3(PDE6B):c.*692G>A rs1444528398 0.00001
NM_000283.4(PDE6B):c.*187G>A rs1014159767 0.00001
NM_000283.4(PDE6B):c.*215A>G rs1040628827 0.00001
NM_000283.4(PDE6B):c.*279G>A rs886059548 0.00001
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys) rs376908835 0.00001
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys) rs139369984 0.00001
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=) rs886059545 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr) rs886059543 0.00001
NM_000539.3(RHO):c.*1144C>T rs886057977 0.00001
NM_000539.3(RHO):c.48G>A (p.Ala16=) rs766112074 0.00001
NM_000539.3(RHO):c.732G>A (p.Gln244=) rs148222991 0.00001
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) rs752805805 0.00001
NM_000539.3(RHO):c.87C>T (p.Tyr29=) rs149084537 0.00001
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) rs1316267671 0.00001
NM_000541.5(SAG):c.208C>T (p.Arg70Cys) rs777934036 0.00001
NM_001004334.4(GPR179):c.*359C>G rs143494935 0.00001
NM_001004334.4(GPR179):c.1070T>C (p.Leu357Pro) rs747110718 0.00001
NM_001004334.4(GPR179):c.1417C>T (p.Leu473=) rs762389933 0.00001
NM_001004334.4(GPR179):c.1785-3C>T rs1394125999 0.00001
NM_001004334.4(GPR179):c.180C>T (p.Leu60=) rs770286670 0.00001
NM_001004334.4(GPR179):c.1947C>T (p.Asp649=) rs372049950 0.00001
NM_001004334.4(GPR179):c.2149C>T (p.Arg717Cys) rs767911479 0.00001
NM_001004334.4(GPR179):c.272T>C (p.Leu91Pro) rs867417666 0.00001
NM_001004334.4(GPR179):c.296C>T (p.Ala99Val) rs201405656 0.00001
NM_001004334.4(GPR179):c.3110T>C (p.Val1037Ala) rs2037343188 0.00001
NM_001004334.4(GPR179):c.3349G>A (p.Gly1117Arg) rs771334464 0.00001
NM_001004334.4(GPR179):c.3357G>A (p.Ala1119=) rs547577586 0.00001
NM_001004334.4(GPR179):c.3447C>T (p.Asp1149=) rs1262445850 0.00001
NM_001004334.4(GPR179):c.3466C>G (p.Gln1156Glu) rs1184314233 0.00001
NM_001004334.4(GPR179):c.4071G>A (p.Lys1357=) rs1168693630 0.00001
NM_001004334.4(GPR179):c.4810G>T (p.Glu1604Ter) rs1464221989 0.00001
NM_001004334.4(GPR179):c.489C>T (p.Ala163=) rs749471277 0.00001
NM_001004334.4(GPR179):c.4996C>T (p.Gln1666Ter) rs1460626520 0.00001
NM_001004334.4(GPR179):c.5639A>G (p.Asp1880Gly) rs745835590 0.00001
NM_001004334.4(GPR179):c.6457G>A (p.Gly2153Arg) rs757565461 0.00001
NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=) rs781391422 0.00001
NM_001004334.4(GPR179):c.6965C>T (p.Thr2322Ile) rs759484427 0.00001
NM_001004334.4(GPR179):c.858A>G (p.Pro286=) rs758285150 0.00001
NM_001004334.4(GPR179):c.952C>T (p.Arg318Cys) rs773004800 0.00001
NM_001004334.4(GPR179):c.98G>A (p.Arg33His) rs886052900 0.00001
NM_001252024.2(TRPM1):c.*350C>G rs934884046 0.00001
NM_001252024.2(TRPM1):c.1126G>A (p.Asp376Asn) rs765946115 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro) rs886051031 0.00001
NM_001252024.2(TRPM1):c.1455A>G (p.Gln485=) rs755094572 0.00001
NM_001252024.2(TRPM1):c.1623+5G>A rs765895314 0.00001
NM_001252024.2(TRPM1):c.1867G>A (p.Asp623Asn) rs769362413 0.00001
NM_001252024.2(TRPM1):c.191G>C (p.Trp64Ser) rs754980973 0.00001
NM_001252024.2(TRPM1):c.2087+6T>C rs760758606 0.00001
NM_001252024.2(TRPM1):c.2268C>T (p.Thr756=) rs756489745 0.00001
NM_001252024.2(TRPM1):c.2269G>A (p.Asp757Asn) rs369155075 0.00001
NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser) rs746594891 0.00001
NM_001252024.2(TRPM1):c.2317-1G>C rs756690940 0.00001
NM_001252024.2(TRPM1):c.2440-2A>G rs762634272 0.00001
NM_001252024.2(TRPM1):c.2834A>G (p.Tyr945Cys) rs756380069 0.00001
NM_001252024.2(TRPM1):c.3007G>A (p.Gly1003Arg) rs769138762 0.00001
NM_001252024.2(TRPM1):c.3148+1G>A rs779821510 0.00001
NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile) rs375136665 0.00001
NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg) rs776483887 0.00001
NM_001252024.2(TRPM1):c.378T>C (p.His126=) rs769783908 0.00001
NM_001252024.2(TRPM1):c.386T>C (p.Leu129Pro) rs2034428006 0.00001
NM_001252024.2(TRPM1):c.4838A>T (p.Lys1613Met) rs753089696 0.00001
NM_001252024.2(TRPM1):c.494-8G>A rs757371423 0.00001
NM_001252024.2(TRPM1):c.75C>T (p.Asp25=) rs777321357 0.00001
NM_004727.3(SLC24A1):c.*1363G>A rs886051356 0.00001
NM_004727.3(SLC24A1):c.*1616A>T rs1433961660 0.00001
NM_004727.3(SLC24A1):c.*203G>A rs1022815934 0.00001
NM_004727.3(SLC24A1):c.*2040T>C rs927721327 0.00001
NM_004727.3(SLC24A1):c.-127+10G>A rs562775135 0.00001
NM_004727.3(SLC24A1):c.-49T>C rs777522531 0.00001
NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln) rs886051348 0.00001
NM_004727.3(SLC24A1):c.1441C>G (p.Leu481Val) rs755476531 0.00001
NM_004727.3(SLC24A1):c.1892C>T (p.Pro631Leu) rs771446643 0.00001
NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn) rs771727416 0.00001
NM_144499.3(GNAT1):c.*1101C>T rs886058687 0.00001
NM_144499.3(GNAT1):c.*2074T>C rs886058691 0.00001
NM_144499.3(GNAT1):c.*2129G>A rs886058692 0.00001
NM_144499.3(GNAT1):c.*678C>T rs1004131014 0.00001
NM_144499.3(GNAT1):c.926G>C (p.Arg309Pro) rs367790137 0.00001
NM_145200.5(CABP4):c.*1402G>A rs949888937 0.00001
NM_145200.5(CABP4):c.*1662G>A rs1257789507 0.00001
NM_145200.5(CABP4):c.*1827C>T rs886048566 0.00001
NM_145200.5(CABP4):c.*1957A>G rs1181533164 0.00001
NM_145200.5(CABP4):c.*2438G>A rs886048582 0.00001
NM_145200.5(CABP4):c.*2583C>T rs886048583 0.00001
NM_145200.5(CABP4):c.*295G>A rs181113902 0.00001
NM_145200.5(CABP4):c.*669T>C rs886048564 0.00001
NM_145200.5(CABP4):c.228T>G (p.Thr76=) rs1050306159 0.00001
NM_145200.5(CABP4):c.367-8C>T rs200871690 0.00001
NM_145200.5(CABP4):c.397G>A (p.Glu133Lys) rs763497383 0.00001
NM_145200.5(CABP4):c.432C>T (p.Asp144=) rs766247910 0.00001
NM_145200.5(CABP4):c.541+14C>T rs886048561 0.00001
NM_198506.5(LRIT3):c.*1516C>A rs886058987 0.00001
NM_198506.5(LRIT3):c.*82C>T rs942045086 0.00001
NM_198506.5(LRIT3):c.1018G>A (p.Val340Met) rs746795751 0.00001
NM_198506.5(LRIT3):c.1157T>G (p.Leu386Arg) rs151283521 0.00001
NM_198506.5(LRIT3):c.1314C>A (p.Asn438Lys) rs886058986 0.00001
NM_198506.5(LRIT3):c.1677G>A (p.Val559=) rs762638752 0.00001
NM_198506.5(LRIT3):c.1913G>C (p.Ser638Thr) rs550500577 0.00001
NM_198506.5(LRIT3):c.1966C>G (p.Leu656Val) rs1195746556 0.00001
NM_198506.5(LRIT3):c.660C>T (p.Asp220=) rs761469951 0.00001
NM_198506.5(LRIT3):c.667A>G (p.Ile223Val) rs145327749 0.00001
NM_198506.5(LRIT3):c.966C>T (p.Asp322=) rs141753583 0.00001
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg) rs1008930073
NM_000283.4(PDE6B):c.*115T>A rs1194338211
NM_000283.4(PDE6B):c.*390T>C rs886059549
NM_000283.4(PDE6B):c.*561C>T rs886059551
NM_000283.4(PDE6B):c.*592A>G rs886059552
NM_000283.4(PDE6B):c.*626T>C rs886059553
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=) rs754298712
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) rs1208473466
NM_000283.4(PDE6B):c.117G>T (p.Gly39=) rs140538420
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=) rs1736347354
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln) rs144664551
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser) rs754298498
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser) rs752738349
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=) rs886059544
NM_000283.4(PDE6B):c.2129+9G>C rs753943492
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu) rs886059546
NM_000283.4(PDE6B):c.2269-7C>T rs1268705787
NM_000283.4(PDE6B):c.483C>T (p.Ser161=) rs886059526
NM_000283.4(PDE6B):c.711+12C>T rs886059527
NM_000283.4(PDE6B):c.853-9T>C rs886059542
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala) rs1736021671
NM_000539.3(RHO):c.*1454G>A rs2084812090
NM_000539.3(RHO):c.*224C>T rs886057970
NM_000539.3(RHO):c.*26C>T rs773347364
NM_000539.3(RHO):c.*276C>T rs759322778
NM_000539.3(RHO):c.*406G>C rs2084804479
NM_000539.3(RHO):c.*40C>T rs886057968
NM_000539.3(RHO):c.*542G>A rs369408405
NM_000539.3(RHO):c.*573C>T rs2084806235
NM_000539.3(RHO):c.*633G>A rs886057972
NM_000539.3(RHO):c.*645G>C rs886057973
NM_000539.3(RHO):c.*670A>C rs2084806843
NM_000539.3(RHO):c.*679A>G rs1359424642
NM_000539.3(RHO):c.*815G>T rs2084807511
NM_000539.3(RHO):c.*838A>T rs886057974
NM_000539.3(RHO):c.*887G>C rs886057975
NM_000539.3(RHO):c.*970C>T rs886057976
NM_000539.3(RHO):c.-24G>T rs771188148
NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) rs765931092
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) rs886057967
NM_000539.3(RHO):c.696+12G>A rs55915536
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) rs1390478420
NM_000539.3(RHO):c.806C>A (p.Ala269Asp) rs2084789658
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) rs2084790979
NM_000843.4(GRM6):c.2003T>C (p.Leu668Pro) rs777168556
NM_000843.4(GRM6):c.527C>T (p.Ser176Phe) rs1581898677
NM_000843.4(GRM6):c.824G>A (p.Gly275Asp)
NM_001004334.4(GPR179):c.*17G>C rs770311999
NM_001004334.4(GPR179):c.*388A>C rs1018088318
NM_001004334.4(GPR179):c.*516T>C rs886052893
NM_001004334.4(GPR179):c.*640G>T rs2037280359
NM_001004334.4(GPR179):c.1294C>A (p.Pro432Thr) rs772895584
NM_001004334.4(GPR179):c.134G>T (p.Gly45Val) rs886052899
NM_001004334.4(GPR179):c.1388T>A (p.Ile463Asn) rs886052897
NM_001004334.4(GPR179):c.1477C>A (p.His493Asn) rs114716738
NM_001004334.4(GPR179):c.1784+9G>A rs774545222
NM_001004334.4(GPR179):c.1916G>A (p.Arg639Gln) rs62073369
NM_001004334.4(GPR179):c.2002T>C (p.Trp668Arg) rs2037374851
NM_001004334.4(GPR179):c.2413G>C (p.Glu805Gln) rs199619898
NM_001004334.4(GPR179):c.2419G>A (p.Val807Met) rs2037354573
NM_001004334.4(GPR179):c.2556C>T (p.Leu852=) rs777488974
NM_001004334.4(GPR179):c.278dup (p.Ser94fs) rs794726685
NM_001004334.4(GPR179):c.3092G>A (p.Arg1031Lys)
NM_001004334.4(GPR179):c.3125C>G (p.Ala1042Gly) rs886052896
NM_001004334.4(GPR179):c.3364_3365del (p.Ser1122fs) rs1205982736
NM_001004334.4(GPR179):c.3451G>A (p.Glu1151Lys) rs1170813264
NM_001004334.4(GPR179):c.3460C>T (p.Gln1154Ter) rs757044884
NM_001004334.4(GPR179):c.3474C>A (p.Asn1158Lys) rs755044433
NM_001004334.4(GPR179):c.3518G>C (p.Ser1173Thr) rs565610587
NM_001004334.4(GPR179):c.3699G>T (p.Leu1233=) rs35803744
NM_001004334.4(GPR179):c.3846C>T (p.Asp1282=) rs2037332515
NM_001004334.4(GPR179):c.3876G>A (p.Glu1292=) rs1699475935
NM_001004334.4(GPR179):c.3919C>T (p.Arg1307Trp) rs765046358
NM_001004334.4(GPR179):c.4073T>G (p.Val1358Gly) rs752363198
NM_001004334.4(GPR179):c.4081C>G (p.Pro1361Ala) rs1471292987
NM_001004334.4(GPR179):c.4888G>A (p.Glu1630Lys) rs149998444
NM_001004334.4(GPR179):c.5119T>C (p.Trp1707Arg) rs769294419
NM_001004334.4(GPR179):c.5386T>G (p.Cys1796Gly) rs369190209
NM_001004334.4(GPR179):c.5769T>C (p.Gly1923=) rs2037304044
NM_001004334.4(GPR179):c.6012T>A (p.Asp2004Glu) rs886052895
NM_001004334.4(GPR179):c.6169G>A (p.Val2057Met) rs762962801
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001252024.2(TRPM1):c.*240G>T rs138295515
NM_001252024.2(TRPM1):c.*250T>C rs2031763037
NM_001252024.2(TRPM1):c.*651C>T rs184781100
NM_001252024.2(TRPM1):c.*65A>G rs2031769261
NM_001252024.2(TRPM1):c.108C>A (p.Asn36Lys) rs886051034
NM_001252024.2(TRPM1):c.1265C>T (p.Pro422Leu) rs2033921068
NM_001252024.2(TRPM1):c.1525A>G (p.Met509Val) rs2033876591
NM_001252024.2(TRPM1):c.2268C>A (p.Thr756=) rs756489745
NM_001252024.2(TRPM1):c.2440-13C>A rs751355642
NM_001252024.2(TRPM1):c.254del (p.Gly85fs) rs1567032774
NM_001252024.2(TRPM1):c.2572A>G (p.Ile858Val) rs886051030
NM_001252024.2(TRPM1):c.2653A>C (p.Ile885Leu) rs201650867
NM_001252024.2(TRPM1):c.2843A>G (p.Tyr948Cys) rs1356433853
NM_001252024.2(TRPM1):c.2860T>G (p.Cys954Gly)
NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp) rs184390324
NM_001252024.2(TRPM1):c.330G>T (p.Met110Ile) rs886051033
NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs) rs1566996007
NM_001252024.2(TRPM1):c.3666dup (p.Glu1223Ter) rs1566982738
NM_001252024.2(TRPM1):c.4286T>C (p.Ile1429Thr) rs886051029
NM_001252024.2(TRPM1):c.4694T>C (p.Leu1565Ser) rs2031784574
NM_001252024.2(TRPM1):c.493+13C>T rs372144508
NM_001252024.2(TRPM1):c.846G>C (p.Val282=) rs773186865
NM_001252024.2(TRPM1):c.970A>G (p.Ile324Val) rs886051032
NM_001256789.3(CACNA1F):c.1579_1599del (p.Leu527_Leu533del) rs2147917984
NM_001256789.3(CACNA1F):c.1686G>A (p.Thr562=) rs782527288
NM_001256789.3(CACNA1F):c.1933A>T (p.Ile645Phe) rs1344295491
NM_001256789.3(CACNA1F):c.2624T>A (p.Val875Glu) rs2065752304
NM_001256789.3(CACNA1F):c.3458C>A (p.Ala1153Asp)
NM_001256789.3(CACNA1F):c.4054AAC[2] (p.Asn1354del) rs2065661046
NM_001378477.3(NYX):c.*157C>G rs1057515884
NM_001378477.3(NYX):c.*16del rs762960396
NM_001378477.3(NYX):c.*72T>C rs1057515883
NM_001378477.3(NYX):c.*734_*735dup rs201620180
NM_001378477.3(NYX):c.148C>T (p.Arg50Trp) rs1287556040
NM_001378477.3(NYX):c.22+5G>A
NM_001378477.3(NYX):c.371_372dup (p.Thr125fs) rs2147025534
NM_001378477.3(NYX):c.467T>C (p.Leu156Pro) rs1245924306
NM_001378477.3(NYX):c.645C>G (p.Ala215=) rs924692905
NM_001378477.3(NYX):c.722C>T (p.Pro241Leu) rs763017414
NM_004727.3(SLC24A1):c.*1016G>A rs1319803654
NM_004727.3(SLC24A1):c.*1099A>T rs886051354
NM_004727.3(SLC24A1):c.*1346C>A rs777291212
NM_004727.3(SLC24A1):c.*1883A>G rs2075670262
NM_004727.3(SLC24A1):c.*1959A>G rs1596361110
NM_004727.3(SLC24A1):c.*2146T>G rs77255459
NM_004727.3(SLC24A1):c.*349C>T rs184758393
NM_004727.3(SLC24A1):c.*858C>T rs2075630737
NM_004727.3(SLC24A1):c.*986G>T rs2075635357
NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His) rs919442711
NM_004727.3(SLC24A1):c.1886G>A (p.Ser629Asn) rs2074500484
NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter) rs367858805
NM_004727.3(SLC24A1):c.2053+6C>T rs886051350
NM_004727.3(SLC24A1):c.2106C>T (p.Ala702=) rs2075238543
NM_004727.3(SLC24A1):c.222G>T (p.Met74Ile) rs370527618
NM_004727.3(SLC24A1):c.2516G>T (p.Gly839Val) rs2075464806
NM_004727.3(SLC24A1):c.2574T>G (p.Asp858Glu) rs2075467314
NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=) rs886051352
NM_004727.3(SLC24A1):c.2838G>A (p.Met946Ile) rs760348512
NM_004727.3(SLC24A1):c.2T>C (p.Met1Thr) rs886051347
NM_004727.3(SLC24A1):c.3050+3G>C rs758702980
NM_004727.3(SLC24A1):c.3072T>C (p.Leu1024=) rs139757342
NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs) rs886051349
NM_004727.3(SLC24A1):c.639G>T (p.Ala213=) rs781442429
NM_144499.3(GNAT1):c.*1205C>T rs886058688
NM_144499.3(GNAT1):c.*128T>A rs886058686
NM_144499.3(GNAT1):c.*1789A>G rs187475557
NM_144499.3(GNAT1):c.*2128C>A rs879841527
NM_144499.3(GNAT1):c.*806G>A rs574271694
NM_144499.3(GNAT1):c.*834T>A rs760716503
NM_144499.3(GNAT1):c.1015A>G (p.Ile339Val) rs1699480267
NM_144499.3(GNAT1):c.149+8C>A rs1699440055
NM_144499.3(GNAT1):c.259C>T (p.Leu87Phe) rs1699444080
NM_144499.3(GNAT1):c.450-11G>T rs2109139018
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144499.3(GNAT1):c.830C>T (p.Ala277Val) rs886058685
NM_145200.5(CABP4):c.*1285G>A rs373857371
NM_145200.5(CABP4):c.*1758G>A rs545370587
NM_145200.5(CABP4):c.*1933C>A rs886048573
NM_145200.5(CABP4):c.*2061C>T rs1382811119
NM_145200.5(CABP4):c.*2065T>G rs886048575
NM_145200.5(CABP4):c.*2331A>G rs886048581
NM_145200.5(CABP4):c.*2357A>G rs1461232183
NM_145200.5(CABP4):c.*262C>G rs886048562
NM_145200.5(CABP4):c.*2886T>A rs1865015075
NM_145200.5(CABP4):c.*2896T>C rs1865015731
NM_145200.5(CABP4):c.*2905G>A rs1865015969
NM_145200.5(CABP4):c.*324C>A rs886048563
NM_145200.5(CABP4):c.*408C>T rs376738871
NM_145200.5(CABP4):c.*62A>T rs899658098
NM_145200.5(CABP4):c.194A>G (p.Glu65Gly) rs886048559
NM_145200.5(CABP4):c.246C>A (p.Gly82=) rs147329388
NM_145200.5(CABP4):c.281G>A (p.Arg94His) rs143040005
NM_145200.5(CABP4):c.315C>T (p.His105=) rs756570102
NM_145200.5(CABP4):c.415G>A (p.Glu139Lys) rs769103245
NM_145200.5(CABP4):c.524A>G (p.Gln175Arg) rs886048560
NM_145200.5(CABP4):c.619_633dup (p.Gly207_Leu211dup) rs2135182933
NM_145200.5(CABP4):c.799+7C>T rs370492431
NM_198506.5(LRIT3):c.*1070C>T rs1734844540
NM_198506.5(LRIT3):c.*1155G>A rs1214674799
NM_198506.5(LRIT3):c.*1182T>C rs1579384911
NM_198506.5(LRIT3):c.*258G>A rs1734822393
NM_198506.5(LRIT3):c.*959C>T rs954666885
NM_198506.5(LRIT3):c.1109A>T (p.Gln370Leu) rs778238467
NM_198506.5(LRIT3):c.1159T>G (p.Trp387Gly) rs140494004
NM_198506.5(LRIT3):c.15_16insAT (p.Cys6fs) rs1560588083
NM_198506.5(LRIT3):c.848C>T (p.Pro283Leu) rs886058985
NM_198506.5(LRIT3):c.900A>G (p.Ile300Met) rs996641458
NM_198506.5(LRIT3):c.99T>C (p.Asn33=) rs1054476083

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