ClinVar Miner

List of variants reported as uncertain significance for corneal dystrophy

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 786
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HGVS dbSNP gnomAD frequency
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_000358.3(TGFBI):c.*537T>G rs4572 0.33766
NM_207352.4(CYP4V2):c.*1057T>C rs62348766 0.02979
NM_207352.4(CYP4V2):c.*1474G>T rs77175303 0.01464
NM_207352.4(CYP4V2):c.*1053C>T rs62348765 0.00964
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_001174089.2(SLC4A11):c.2391T>G (p.Thr797=) rs7262506 0.00889
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro) rs118020901 0.00680
NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=) rs140461431 0.00580
NM_207352.4(CYP4V2):c.*4T>C rs76978024 0.00479
NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=) rs35262978 0.00466
NM_001174089.2(SLC4A11):c.1167C>T (p.Ile389=) rs78274653 0.00393
NM_001174089.2(SLC4A11):c.1169-12G>A rs200921422 0.00346
NM_207352.4(CYP4V2):c.*1023T>C rs62348764 0.00326
NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=) rs144123179 0.00316
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_000358.3(TGFBI):c.134+14C>A rs529657143 0.00294
NM_207352.4(CYP4V2):c.*160A>G rs187506967 0.00263
NM_207352.4(CYP4V2):c.*392G>A rs185369023 0.00239
NM_001174089.2(SLC4A11):c.*109C>T rs143751993 0.00238
NM_001174089.2(SLC4A11):c.1043-10C>T rs201799793 0.00219
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp) rs185919705 0.00200
NM_021615.5(CHST6):c.*4291T>C rs72789420 0.00194
NM_207352.4(CYP4V2):c.*2590T>C rs532291947 0.00191
NM_001368894.2(PAX6):c.*357A>T rs774473337 0.00189
NM_015040.4(PIKFYVE):c.*615T>A rs182741783 0.00187
NM_001174089.2(SLC4A11):c.992G>A (p.Arg331Gln) rs112163941 0.00170
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=) rs145611966 0.00169
NM_207352.4(CYP4V2):c.*175A>G rs192122143 0.00158
NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp) rs138137682 0.00140
NM_002353.3(TACSTD2):c.*281A>C rs181672295 0.00134
NM_207352.4(CYP4V2):c.*1463G>C rs549421198 0.00123
NM_001174089.2(SLC4A11):c.*323C>T rs148964021 0.00118
NM_207352.4(CYP4V2):c.*1159T>A rs565805219 0.00111
NM_014588.5(VSX1):c.-244G>T rs567067551 0.00108
NM_021615.5(CHST6):c.*1810C>T rs111307793 0.00107
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser) rs121909217 0.00103
NM_021615.5(CHST6):c.993G>T (p.Gln331His) rs140699573 0.00101
NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=) rs139297339 0.00099
NM_001174089.2(SLC4A11):c.2193G>C (p.Thr731=) rs149912717 0.00096
NM_207352.4(CYP4V2):c.*715C>T rs770372165 0.00096
NM_001920.5(DCN):c.*148T>G rs564091657 0.00091
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_014588.6(VSX1):c.173C>T (p.Pro58Leu) rs369865672 0.00087
NM_015040.4(PIKFYVE):c.*1090A>G rs41305981 0.00086
NM_207352.4(CYP4V2):c.*2078T>C rs531522779 0.00084
NM_002353.3(TACSTD2):c.*94G>A rs182546579 0.00079
NM_013319.3(UBIAD1):c.-104G>A rs559993089 0.00077
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=) rs202148693 0.00077
NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=) rs147324566 0.00073
NM_207352.4(CYP4V2):c.*1589C>T rs144839540 0.00071
NM_015040.4(PIKFYVE):c.*729T>C rs144852130 0.00070
NM_021615.5(CHST6):c.*1526C>T rs148219139 0.00067
NM_021615.5(CHST6):c.*3815G>A rs563939196 0.00067
NM_021615.5(CHST6):c.*3441A>T rs529530566 0.00066
NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=) rs62208067 0.00065
NM_198252.3(GSN):c.*185G>A rs757682798 0.00065
NM_000358.3(TGFBI):c.1083C>T (p.Asn361=) rs199645034 0.00064
NM_001174089.2(SLC4A11):c.1572C>T (p.Leu524=) rs201595005 0.00063
NM_002353.3(TACSTD2):c.-56C>G rs774270086 0.00061
NM_000358.3(TGFBI):c.678C>T (p.Asn226=) rs369362360 0.00057
NM_000358.3(TGFBI):c.141C>T (p.Asn47=) rs368854767 0.00056
NM_021615.5(CHST6):c.1043T>G (p.Leu348Arg) rs189849720 0.00054
NM_207352.4(CYP4V2):c.*1737A>G rs78965616 0.00053
NM_207352.4(CYP4V2):c.*232G>A rs145900260 0.00052
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn) rs202239395 0.00051
NM_013319.3(UBIAD1):c.*612T>C rs886045071 0.00050
NM_019040.5(ELP4):c.*3523del rs886048188 0.00050
NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=) rs193080010 0.00048
NM_021615.5(CHST6):c.1124T>G (p.Val375Gly) rs142097284 0.00046
NM_207352.4(CYP4V2):c.*2010G>A rs190455204 0.00043
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) rs138262189 0.00042
NM_000358.3(TGFBI):c.852C>A (p.Ala284=) rs189359867 0.00041
NM_015040.4(PIKFYVE):c.*2548C>T rs755578829 0.00041
NM_019040.5(ELP4):c.*2716T>C rs549835579 0.00041
NM_021615.5(CHST6):c.*972C>A rs561639379 0.00041
NM_001174089.2(SLC4A11):c.765G>A (p.Thr255=) rs78860240 0.00039
NM_013319.3(UBIAD1):c.*1189A>G rs776390306 0.00039
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330 0.00038
NM_000358.3(TGFBI):c.*462C>G rs925448179 0.00035
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys) rs200065806 0.00035
NM_021615.5(CHST6):c.944G>A (p.Arg315His) rs140618049 0.00035
NM_207352.4(CYP4V2):c.*1774C>T rs779828762 0.00035
NM_207352.4(CYP4V2):c.*923G>A rs943194261 0.00035
NM_207352.4(CYP4V2):c.282C>T (p.Val94=) rs142775374 0.00035
NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp) rs200219644 0.00034
NM_013319.3(UBIAD1):c.*1265T>A rs372234308 0.00034
NM_021615.5(CHST6):c.*5011G>A rs540453877 0.00034
NM_021615.5(CHST6):c.*1316A>C rs773150182 0.00032
NM_001174089.2(SLC4A11):c.251C>T (p.Ala84Val) rs145115400 0.00031
NM_001174089.2(SLC4A11):c.453G>C (p.Glu151Asp) rs141836046 0.00031
NM_019040.5(ELP4):c.*5016T>G rs776894983 0.00031
NM_207352.4(CYP4V2):c.*2163G>A rs565869902 0.00031
NM_001174089.2(SLC4A11):c.606-15C>T rs377025499 0.00030
NM_013319.3(UBIAD1):c.*295G>A rs904203949 0.00030
NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser) rs201158209 0.00029
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg) rs143965185 0.00029
NM_021615.5(CHST6):c.*4586T>C rs535487354 0.00029
NM_021615.5(CHST6):c.976G>T (p.Ala326Ser) rs201349198 0.00028
NM_021615.5(CHST6):c.*3547C>T rs540649676 0.00027
NM_021615.5(CHST6):c.*4444A>G rs1048250703 0.00027
NM_021615.5(CHST6):c.1181G>A (p.Arg394Gln) rs139042144 0.00025
NM_207352.4(CYP4V2):c.*452C>T rs564129543 0.00025
NM_000358.3(TGFBI):c.*119G>A rs142145618 0.00024
NM_001174089.2(SLC4A11):c.2226G>A (p.Ser742=) rs200879869 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_019040.5(ELP4):c.*4571A>G rs1029065786 0.00024
NM_207352.4(CYP4V2):c.*2266A>G rs934968593 0.00024
NM_000494.4(COL17A1):c.4081G>A (p.Gly1361Arg) rs143021968 0.00023
NM_001174089.2(SLC4A11):c.*27C>T rs148132505 0.00023
NM_000358.3(TGFBI):c.968C>T (p.Ala323Val) rs201210696 0.00022
NM_015040.4(PIKFYVE):c.-157A>T rs886055529 0.00022
NM_021615.5(CHST6):c.*4373dup rs775614448 0.00022
NM_021615.5(CHST6):c.*5208C>T rs867482636 0.00022
NM_021615.5(CHST6):c.*824G>A rs540252682 0.00022
NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala) rs201709971 0.00021
NM_000358.3(TGFBI):c.1127-11C>T rs376923930 0.00021
NM_000358.3(TGFBI):c.1741G>A (p.Gly581Arg) rs200887459 0.00021
NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=) rs368001060 0.00021
NM_001174089.2(SLC4A11):c.44-73C>T rs200343026 0.00021
NM_021615.5(CHST6):c.*4238A>G rs570273277 0.00021
NM_198252.3(GSN):c.*98T>A rs903037306 0.00021
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His) rs138739819 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_001368894.2(PAX6):c.*335T>C rs766518284 0.00020
NM_019040.5(ELP4):c.*2387C>T rs990066045 0.00020
NM_021615.5(CHST6):c.*3082G>A rs150839584 0.00020
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) rs752572521 0.00020
NM_207352.4(CYP4V2):c.674+14T>C rs201205689 0.00020
NM_013319.3(UBIAD1):c.*1535A>T rs536904644 0.00019
NM_015040.4(PIKFYVE):c.*1358C>T rs777999576 0.00019
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) rs201743866 0.00018
NM_001174089.2(SLC4A11):c.1944C>T (p.Leu648=) rs376622984 0.00017
NM_019040.5(ELP4):c.*3383C>T rs541022955 0.00017
NM_198252.3(GSN):c.*126T>C rs886063411 0.00017
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp) rs139078082 0.00016
NM_001920.5(DCN):c.*80C>T rs531541570 0.00016
NM_013319.3(UBIAD1):c.*1010C>T rs886045075 0.00016
NM_013319.3(UBIAD1):c.*519G>A rs937500463 0.00016
NM_014588.6(VSX1):c.*416T>C rs976857671 0.00016
NM_021615.5(CHST6):c.*3608A>C rs560765910 0.00016
NM_021615.5(CHST6):c.*4942C>T rs907270252 0.00016
NM_021615.5(CHST6):c.*522G>C rs770900838 0.00016
NM_021615.5(CHST6):c.301C>T (p.Leu101=) rs373160858 0.00016
NM_021615.5(CHST6):c.*5452G>C rs886052293 0.00015
NM_021615.5(CHST6):c.-115C>G rs886052324 0.00015
NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) rs147371989 0.00015
NM_001174089.2(SLC4A11):c.370G>A (p.Val124Ile) rs148613811 0.00014
NM_001920.5(DCN):c.621T>G (p.Ile207Met) rs373676217 0.00014
NM_024915.4(GRHL2):c.548G>A (p.Arg183Gln) rs142411476 0.00014
NM_198252.3(GSN):c.1538G>A (p.Arg513His) rs148410442 0.00014
NM_000358.3(TGFBI):c.*72T>C rs373984033 0.00013
NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val) rs192398905 0.00013
NM_001174089.2(SLC4A11):c.2058C>G (p.Leu686=) rs141079217 0.00013
NM_001174089.2(SLC4A11):c.523+9G>A rs200962876 0.00013
NM_013319.3(UBIAD1):c.*239G>A rs766089759 0.00013
NM_014588.6(VSX1):c.281C>A (p.Ala94Glu) rs886056557 0.00013
NM_021615.5(CHST6):c.*2131C>T rs192587632 0.00013
NM_021615.5(CHST6):c.*4085C>T rs144466579 0.00013
NM_021615.5(CHST6):c.*5150G>A rs777374430 0.00013
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr) rs376015936 0.00013
NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=) rs190463957 0.00012
NM_001174089.2(SLC4A11):c.1419G>A (p.Ser473=) rs149866580 0.00012
NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=) rs199634796 0.00012
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) rs368537807 0.00012
NM_207352.4(CYP4V2):c.*1986G>A rs146050895 0.00012
NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln) rs138125037 0.00011
NM_001174089.2(SLC4A11):c.2193-13C>T rs199569836 0.00011
NM_001174089.2(SLC4A11):c.2388+7G>A rs117959552 0.00011
NM_002353.3(TACSTD2):c.735C>T (p.Arg245=) rs145491347 0.00011
NM_013319.3(UBIAD1):c.*1506T>C rs896437124 0.00011
NM_014588.5(VSX1):c.*820T>C rs186958062 0.00011
NM_019040.5(ELP4):c.*4323G>T rs923696320 0.00011
NM_019040.5(ELP4):c.*4806T>A rs189545730 0.00011
NM_021615.5(CHST6):c.799C>T (p.Arg267Cys) rs750027288 0.00011
NM_024915.4(GRHL2):c.641G>A (p.Ser214Asn) rs199931364 0.00011
NM_000358.3(TGFBI):c.*40C>T rs376033284 0.00010
NM_000358.3(TGFBI):c.2005C>T (p.Arg669Ter) rs201554996 0.00010
NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=) rs367721824 0.00010
NM_014588.6(VSX1):c.*506T>C rs886056554 0.00010
NM_015040.4(PIKFYVE):c.*518C>A rs148739344 0.00010
NM_021615.5(CHST6):c.*4470C>T rs886052297 0.00010
NM_198252.3(GSN):c.*205G>A rs779431879 0.00010
NM_207352.4(CYP4V2):c.*1851A>G rs886059293 0.00010
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu) rs144008429 0.00010
NM_001174089.2(SLC4A11):c.1929C>T (p.Ser643=) rs533752647 0.00009
NM_001920.5(DCN):c.-180A>T rs757178906 0.00009
NM_002353.3(TACSTD2):c.720C>A (p.Gly240=) rs762401640 0.00009
NM_014588.6(VSX1):c.165C>A (p.Cys55Ter) rs756572706 0.00009
NM_014588.6(VSX1):c.389G>A (p.Gly130Asp) rs112232028 0.00009
NM_021615.5(CHST6):c.*2055del rs886052307 0.00009
NM_021615.5(CHST6):c.15C>T (p.Arg5=) rs762744897 0.00009
NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) rs201743343 0.00009
NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) rs201750573 0.00009
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) rs151155909 0.00009
NM_207352.4(CYP4V2):c.*1238C>T rs180813595 0.00009
NM_207352.4(CYP4V2):c.-178C>T rs886059279 0.00009
NM_001920.4(DCN):c.-307A>G rs886049891 0.00008
NM_013319.3(UBIAD1):c.*234C>T rs1057311020 0.00008
NM_013319.3(UBIAD1):c.*709C>T rs752647371 0.00008
NM_014588.6(VSX1):c.*112A>G rs757521024 0.00008
NM_019040.5(ELP4):c.*2845T>C rs1006923180 0.00008
NM_019040.5(ELP4):c.*5123T>A rs576321279 0.00008
NM_021615.5(CHST6):c.1082T>C (p.Val361Ala) rs150880663 0.00008
NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=) rs140234175 0.00007
NM_001174089.2(SLC4A11):c.631C>T (p.Arg211Trp) rs772277691 0.00007
NM_001174089.2(SLC4A11):c.883G>A (p.Gly295Ser) rs146274937 0.00007
NM_013319.3(UBIAD1):c.*1580C>T rs961079383 0.00007
NM_019040.5(ELP4):c.*2502G>A rs886048185 0.00007
NM_021615.5(CHST6):c.496C>G (p.Arg166Gly) rs141965945 0.00007
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala) rs143711287 0.00007
NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala) rs554088498 0.00006
NM_000358.3(TGFBI):c.1513G>A (p.Val505Ile) rs201775031 0.00006
NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu) rs370262564 0.00006
NM_001174089.2(SLC4A11):c.120C>T (p.Phe40=) rs577502313 0.00006
NM_001174089.2(SLC4A11):c.209A>G (p.Asn70Ser) rs371191159 0.00006
NM_001174089.2(SLC4A11):c.242-6C>T rs761855363 0.00006
NM_001368894.2(PAX6):c.*90A>C rs572377074 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_001920.5(DCN):c.-187A>G rs551534809 0.00006
NM_002353.2(TACSTD2):c.-104C>G rs886046457 0.00006
NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly) rs772658288 0.00006
NM_013319.3(UBIAD1):c.*1876G>A rs959093111 0.00006
NM_013319.3(UBIAD1):c.*531C>A rs550736303 0.00006
NM_013319.3(UBIAD1):c.*675A>G rs376227906 0.00006
NM_013319.3(UBIAD1):c.-311C>T rs886045057 0.00006
NM_013319.3(UBIAD1):c.751C>A (p.Leu251Ile) rs780282620 0.00006
NM_014588.6(VSX1):c.*223G>A rs752720378 0.00006
NM_014588.6(VSX1):c.379C>T (p.Pro127Ser) rs1427801501 0.00006
NM_015040.4(PIKFYVE):c.*3186A>T rs753724076 0.00006
NM_015040.4(PIKFYVE):c.*552T>G rs886055536 0.00006
NM_015040.4(PIKFYVE):c.*798A>G rs886055540 0.00006
NM_019040.5(ELP4):c.*4441T>C rs1452069622 0.00006
NM_021615.5(CHST6):c.*106G>T rs958743404 0.00006
NM_021615.5(CHST6):c.*1758A>T rs571537815 0.00006
NM_021615.5(CHST6):c.*241C>T rs886052320 0.00006
NM_021615.5(CHST6):c.*2635G>A rs147675835 0.00006
NM_021615.5(CHST6):c.*4566A>G rs950574157 0.00006
NM_021615.5(CHST6):c.*5149C>T rs192151525 0.00006
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) rs138341672 0.00006
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) rs774085705 0.00006
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) rs371320840 0.00006
NM_207352.4(CYP4V2):c.*1690C>T rs536605930 0.00006
NM_207352.4(CYP4V2):c.*2176T>C rs543284486 0.00006
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys) rs200623218 0.00006
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser) rs777288957 0.00005
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr) rs752287261 0.00005
NM_001920.5(DCN):c.*354A>G rs778805558 0.00005
NM_021615.5(CHST6):c.*2503G>A rs534652248 0.00005
NM_021615.5(CHST6):c.*3297C>T rs891021575 0.00005
NM_021615.5(CHST6):c.*3516T>C rs886052300 0.00005
NM_021615.5(CHST6):c.*712G>A rs565082451 0.00005
NM_021615.5(CHST6):c.500C>T (p.Ser167Phe) rs756399261 0.00005
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) rs753928736 0.00005
NM_021615.5(CHST6):c.918C>T (p.Ile306=) rs576445739 0.00005
NM_207352.4(CYP4V2):c.*2189A>G rs537197865 0.00005
NM_207352.4(CYP4V2):c.*2373G>C rs572480731 0.00005
NM_207352.4(CYP4V2):c.*810C>G rs11947391 0.00005
NM_001174089.2(SLC4A11):c.*351C>T rs776616609 0.00004
NM_001174089.2(SLC4A11):c.259G>A (p.Gly87Ser) rs781159564 0.00004
NM_001174089.2(SLC4A11):c.449A>G (p.Asn150Ser) rs202002249 0.00004
NM_001920.5(DCN):c.*220G>C rs886049890 0.00004
NM_002353.2(TACSTD2):c.-241C>G rs942445556 0.00004
NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp) rs769179472 0.00004
NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro) rs1041904445 0.00004
NM_013319.3(UBIAD1):c.*1565G>A rs1028565043 0.00004
NM_013319.3(UBIAD1):c.*2201C>A rs897434247 0.00004
NM_013319.3(UBIAD1):c.*465_*466del rs777958656 0.00004
NM_014588.6(VSX1):c.*169G>A rs1437204062 0.00004
NM_014588.6(VSX1):c.*64G>T rs908641940 0.00004
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile) rs368783060 0.00004
NM_019040.5(ELP4):c.*3207T>C rs1010978990 0.00004
NM_021615.5(CHST6):c.*1295T>C rs886052311 0.00004
NM_021615.5(CHST6):c.*139A>G rs149297341 0.00004
NM_021615.5(CHST6):c.*2652C>T rs548748758 0.00004
NM_021615.5(CHST6):c.*3490T>C rs886052301 0.00004
NM_021615.5(CHST6):c.*3811A>C rs776294697 0.00004
NM_021615.5(CHST6):c.*588T>G rs886052316 0.00004
NM_021615.5(CHST6):c.*818G>A rs999743468 0.00004
NM_021615.5(CHST6):c.115G>C (p.Ala39Pro) rs760172031 0.00004
NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) rs761505501 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.1096G>A (p.Val366Met) rs375323203 0.00004
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) rs375902120 0.00004
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) rs1220983184 0.00004
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) rs148360076 0.00004
NM_198252.3(GSN):c.513+1G>A rs138677601 0.00004
NM_198252.3(GSN):c.7G>T (p.Val3Leu) rs138068754 0.00004
NM_207352.4(CYP4V2):c.*172T>C rs1043961395 0.00004
NM_207352.4(CYP4V2):c.*2017T>C rs886059295 0.00004
NM_207352.4(CYP4V2):c.*2281A>G rs759670605 0.00004
NM_207352.4(CYP4V2):c.*2622A>T rs561265305 0.00004
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser) rs760001831 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His) rs763083895 0.00004
NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp) rs199604416 0.00003
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr) rs370322948 0.00003
NM_001174089.2(SLC4A11):c.1159G>A (p.Gly387Arg) rs532348574 0.00003
NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His) rs751797233 0.00003
NM_001174089.2(SLC4A11):c.470A>G (p.Asp157Gly) rs748474270 0.00003
NM_001920.5(DCN):c.210G>A (p.Leu70=) rs200516355 0.00003
NM_002353.3(TACSTD2):c.*656T>A rs181590097 0.00003
NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser) rs777212159 0.00003
NM_013319.3(UBIAD1):c.*1495T>C rs886045080 0.00003
NM_013319.3(UBIAD1):c.*1719A>G rs886045082 0.00003
NM_013319.3(UBIAD1):c.*997C>T rs886045074 0.00003
NM_014588.6(VSX1):c.496C>T (p.Arg166Trp) rs74315432 0.00003
NM_015040.4(PIKFYVE):c.*1621A>G rs1046507081 0.00003
NM_015040.4(PIKFYVE):c.*777A>G rs886055539 0.00003
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys) rs771948901 0.00003
NM_019040.5(ELP4):c.*1877A>G rs745626044 0.00003
NM_019040.5(ELP4):c.*3303G>A rs994285025 0.00003
NM_019040.5(ELP4):c.*3504T>C rs886048187 0.00003
NM_019040.5(ELP4):c.*3920C>T rs886048191 0.00003
NM_021615.5(CHST6):c.*164G>T rs901651645 0.00003
NM_021615.5(CHST6):c.*2836T>C rs886052303 0.00003
NM_021615.5(CHST6):c.*2962G>A rs557307672 0.00003
NM_021615.5(CHST6):c.*3602C>T rs576234551 0.00003
NM_021615.5(CHST6):c.*687C>A rs886052315 0.00003
NM_021615.5(CHST6):c.*751C>T rs780235353 0.00003
NM_021615.5(CHST6):c.1113C>G (p.Ala371=) rs763307252 0.00003
NM_021615.5(CHST6):c.392C>T (p.Ser131Leu) rs375059043 0.00003
NM_198252.3(GSN):c.-9-2026C>T rs1048849212 0.00003
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) rs781764487 0.00003
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) rs368079865 0.00003
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) rs370997492 0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His) rs769400986 0.00003
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) rs766055612 0.00003
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) rs752698745 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_207352.4(CYP4V2):c.*2139G>A rs546961288 0.00003
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val) rs762821992 0.00003
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr) rs376640607 0.00003
NM_000358.3(TGFBI):c.1167C>T (p.Ser389=) rs369100201 0.00002
NM_000358.3(TGFBI):c.1194C>T (p.Ala398=) rs555953015 0.00002
NM_001174089.2(SLC4A11):c.1258G>A (p.Ala420Thr) rs376120280 0.00002
NM_001174089.2(SLC4A11):c.1421C>T (p.Thr474Met) rs768052263 0.00002
NM_001174089.2(SLC4A11):c.2558+12T>A rs770217478 0.00002
NM_001174089.2(SLC4A11):c.44-7C>T rs779027436 0.00002
NM_001174089.2(SLC4A11):c.611C>T (p.Thr204Ile) rs1224728455 0.00002
NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val) rs771135532 0.00002
NM_001368894.2(PAX6):c.-430G>C rs886048207 0.00002
NM_001386094.1(AGBL1):c.985A>T (p.Thr329Ser) rs745458688 0.00002
NM_001920.5(DCN):c.632A>G (p.Asn211Ser) rs758510607 0.00002
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) rs369672739 0.00002
NM_014588.5(VSX1):c.-175C>G rs752774218 0.00002
NM_015040.4(PIKFYVE):c.*2495A>G rs548954146 0.00002
NM_021615.5(CHST6):c.*1031A>G rs886052312 0.00002
NM_021615.5(CHST6):c.*13T>C rs750212631 0.00002
NM_021615.5(CHST6):c.*1407C>G rs117273298 0.00002
NM_021615.5(CHST6):c.*3240A>G rs1022400619 0.00002
NM_021615.5(CHST6):c.*4970T>C rs886052295 0.00002
NM_021615.5(CHST6):c.539A>G (p.Asn180Ser) rs773164615 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_198252.3(GSN):c.228G>A (p.Ala76=) rs761824852 0.00002
NM_198252.3(GSN):c.886+12A>C rs201952723 0.00002
NM_207352.4(CYP4V2):c.*1721A>G rs925222658 0.00002
NM_207352.4(CYP4V2):c.*2748A>G rs111816209 0.00002
NM_207352.4(CYP4V2):c.-22C>G rs894067959 0.00002
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=) rs72646292 0.00002
NM_000358.3(TGFBI):c.*355A>G rs1458386992 0.00001
NM_000358.3(TGFBI):c.*534G>T rs1284276296 0.00001
NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys) rs539008520 0.00001
NM_000358.3(TGFBI):c.273C>T (p.Val91=) rs759976271 0.00001
NM_000358.3(TGFBI):c.321C>T (p.Tyr107=) rs761942644 0.00001
NM_000358.3(TGFBI):c.334G>A (p.Val112Ile) rs766343295 0.00001
NM_000358.3(TGFBI):c.348C>A (p.Thr116=) rs886059923 0.00001
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser) rs765026368 0.00001
NM_000358.3(TGFBI):c.459+14C>T rs200273594 0.00001
NM_000358.3(TGFBI):c.969G>A (p.Ala323=) rs533421485 0.00001
NM_001083962.2(TCF4):c.550-22780G>A rs962581774 0.00001
NM_001174089.2(SLC4A11):c.1169-13C>T rs373231267 0.00001
NM_001174089.2(SLC4A11):c.1347G>A (p.Leu449=) rs766711908 0.00001
NM_001174089.2(SLC4A11):c.1489+8C>T rs760670114 0.00001
NM_001174089.2(SLC4A11):c.1857G>A (p.Lys619=) rs1284744149 0.00001
NM_001174089.2(SLC4A11):c.1960A>G (p.Met654Val) rs762735932 0.00001
NM_001174089.2(SLC4A11):c.2355C>T (p.Leu785=) rs755312854 0.00001
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys) rs762942751 0.00001
NM_001174089.2(SLC4A11):c.89G>T (p.Ser30Ile) rs749897720 0.00001
NM_001368894.2(PAX6):c.*207G>A rs886048199 0.00001
NM_001368894.2(PAX6):c.*226T>C rs753595935 0.00001
NM_001368894.2(PAX6):c.*272T>G rs934715799 0.00001
NM_001368894.2(PAX6):c.*626G>C rs1250874661 0.00001
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_001368894.2(PAX6):c.560C>T (p.Thr187Met) rs1159095794 0.00001
NM_001368894.2(PAX6):c.992G>A (p.Arg331Gln) rs75572362 0.00001
NM_001920.5(DCN):c.*351T>C rs1201458812 0.00001
NM_001920.5(DCN):c.*566T>A rs1449263175 0.00001
NM_001920.5(DCN):c.560A>G (p.Lys187Arg) rs555705830 0.00001
NM_002353.3(TACSTD2):c.*59A>C rs886046456 0.00001
NM_002353.3(TACSTD2):c.*6C>T rs749221434 0.00001
NM_013319.3(UBIAD1):c.*1167C>T rs886045076 0.00001
NM_013319.3(UBIAD1):c.*1228A>G rs917463872 0.00001
NM_013319.3(UBIAD1):c.*1426C>T rs886045077 0.00001
NM_013319.3(UBIAD1):c.*1427T>C rs886045078 0.00001
NM_013319.3(UBIAD1):c.*1459T>A rs886045079 0.00001
NM_013319.3(UBIAD1):c.*1494A>G rs868102858 0.00001
NM_013319.3(UBIAD1):c.*1570G>A rs955630598 0.00001
NM_013319.3(UBIAD1):c.*170T>G rs1399081788 0.00001
NM_013319.3(UBIAD1):c.*2091G>A rs1235983002 0.00001
NM_013319.3(UBIAD1):c.*2115C>G rs886045085 0.00001
NM_013319.3(UBIAD1):c.*2187G>A rs886045086 0.00001
NM_013319.3(UBIAD1):c.*2213C>T rs760259916 0.00001
NM_013319.3(UBIAD1):c.*619A>G rs886045072 0.00001
NM_013319.3(UBIAD1):c.*847A>T rs886045073 0.00001
NM_013319.3(UBIAD1):c.-4T>C rs770112579 0.00001
NM_013319.3(UBIAD1):c.740C>T (p.Thr247Met) rs371649705 0.00001
NM_014588.5(VSX1):c.-271G>T rs886056560 0.00001
NM_014588.6(VSX1):c.*159G>A rs747213856 0.00001
NM_014588.6(VSX1):c.*749C>T rs191546716 0.00001
NM_014588.6(VSX1):c.*89T>C rs886056555 0.00001
NM_014588.6(VSX1):c.378G>A (p.Pro126=) rs993182248 0.00001
NM_014588.6(VSX1):c.387C>G (p.Leu129=) rs757690043 0.00001
NM_014588.6(VSX1):c.485G>A (p.Arg162Lys) rs371672721 0.00001
NM_014588.6(VSX1):c.557C>T (p.Ala186Val) rs767762959 0.00001
NM_014588.6(VSX1):c.768C>T (p.Ala256=) rs1457505437 0.00001
NM_014588.6(VSX1):c.83C>T (p.Pro28Leu) rs370818926 0.00001
NM_015040.4(PIKFYVE):c.*1624A>T rs1435627063 0.00001
NM_015040.4(PIKFYVE):c.*1826A>G rs886055545 0.00001
NM_015040.4(PIKFYVE):c.*2238A>G rs1403001936 0.00001
NM_015040.4(PIKFYVE):c.*240C>T rs567925149 0.00001
NM_015040.4(PIKFYVE):c.*2861C>G rs1164636943 0.00001
NM_015040.4(PIKFYVE):c.*3074A>C rs749165043 0.00001
NM_015040.4(PIKFYVE):c.*3329G>T rs778853940 0.00001
NM_015040.4(PIKFYVE):c.*492T>A rs1454811692 0.00001
NM_015040.4(PIKFYVE):c.*519G>A rs551218307 0.00001
NM_015040.4(PIKFYVE):c.*814T>G rs1265056669 0.00001
NM_015040.4(PIKFYVE):c.1320+4C>T rs1693797581 0.00001
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr) rs886055531 0.00001
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=) rs1259685306 0.00001
NM_015040.4(PIKFYVE):c.2458+10C>G rs751563395 0.00001
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=) rs755202351 0.00001
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys) rs778101021 0.00001
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His) rs891262232 0.00001
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr) rs748235174 0.00001
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro) rs749616889 0.00001
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile) rs1698191316 0.00001
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=) rs753209769 0.00001
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys) rs776997681 0.00001
NM_015040.4(PIKFYVE):c.5716-11C>A rs886055535 0.00001
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=) rs748688653 0.00001
NM_019040.5(ELP4):c.*1404G>C rs748381549 0.00001
NM_019040.5(ELP4):c.*3859G>A rs886048190 0.00001
NM_019040.5(ELP4):c.*4023C>A rs886048194 0.00001
NM_019040.5(ELP4):c.*4889G>A rs886048196 0.00001
NM_019040.5(ELP4):c.*5357A>G rs886048197 0.00001
NM_019040.5(ELP4):c.*5471T>C rs886048198 0.00001
NM_021615.5(CHST6):c.*1324C>T rs886052310 0.00001
NM_021615.5(CHST6):c.*1652G>A rs1178270623 0.00001
NM_021615.5(CHST6):c.*1836G>A rs1441816484 0.00001
NM_021615.5(CHST6):c.*2050G>A rs1037087194 0.00001
NM_021615.5(CHST6):c.*2770T>G rs1597468602 0.00001
NM_021615.5(CHST6):c.*4003T>C rs942544702 0.00001
NM_021615.5(CHST6):c.*4325A>G rs1454981481 0.00001
NM_021615.5(CHST6):c.*4497G>A rs886052296 0.00001
NM_021615.5(CHST6):c.*4589C>T rs756919146 0.00001
NM_021615.5(CHST6):c.*794A>C rs886052314 0.00001
NM_021615.5(CHST6):c.*984G>C rs886052313 0.00001
NM_021615.5(CHST6):c.-154T>A rs886052325 0.00001
NM_021615.5(CHST6):c.-21C>A rs886052322 0.00001
NM_021615.5(CHST6):c.1099C>G (p.Gln367Glu) rs751005101 0.00001
NM_021615.5(CHST6):c.1101G>A (p.Gln367=) rs1182017136 0.00001
NM_021615.5(CHST6):c.518T>C (p.Leu173Pro) rs763075517 0.00001
NM_021615.5(CHST6):c.708C>T (p.Asp236=) rs779128434 0.00001
NM_021615.5(CHST6):c.857C>T (p.Ala286Val) rs751949248 0.00001
NM_198252.3(GSN):c.*194G>A rs886063412 0.00001
NM_198252.3(GSN):c.-9-2021G>A rs886063405 0.00001
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) rs1468193571 0.00001
NM_198252.3(GSN):c.1506C>T (p.Arg502=) rs199681748 0.00001
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) rs998869731 0.00001
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) rs368207411 0.00001
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) rs757684181 0.00001
NM_198252.3(GSN):c.1880G>A (p.Arg627His) rs896776181 0.00001
NM_198252.3(GSN):c.1942A>G (p.Met648Val) rs886063406 0.00001
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) rs545428148 0.00001
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) rs367933536 0.00001
NM_198252.3(GSN):c.513C>T (p.Asn171=) rs765499763 0.00001
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) rs376060588 0.00001
NM_198252.3(GSN):c.692C>T (p.Ala231Val) rs754268709 0.00001
NM_198252.3(GSN):c.776T>C (p.Met259Thr) rs770943559 0.00001
NM_198252.3(GSN):c.781G>A (p.Val261Ile) rs745588757 0.00001
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) rs761334580 0.00001
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) rs1157815026 0.00001
NM_207352.4(CYP4V2):c.*1417T>A rs886059292 0.00001
NM_207352.4(CYP4V2):c.*1756T>C rs1046943032 0.00001
NM_207352.4(CYP4V2):c.*2166C>G rs192436436 0.00001
NM_207352.4(CYP4V2):c.*2708A>G rs1463658668 0.00001
NM_207352.4(CYP4V2):c.*282A>C rs994768815 0.00001
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val) rs143272248 0.00001
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys) rs745471184 0.00001
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val) rs531538384 0.00001
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile) rs761190623 0.00001
NM_000223.4(KRT12):c.1148_1159del (p.Gln383_Val387delinsLeu) rs2143257204
NM_000223.4(KRT12):c.1151T>C (p.Leu384Pro) rs2143257255
NM_000223.4(KRT12):c.988G>T (p.Glu330Ter)
NM_000358.3(TGFBI):c.*21A>G rs886059928
NM_000358.3(TGFBI):c.*551A>G rs886059929
NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp) rs986231295
NM_000358.3(TGFBI):c.1265-11C>A rs145873615
NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu) rs886059927
NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys) rs759370852
NM_000358.3(TGFBI):c.1471del (p.Leu491fs) rs1561613851
NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser) rs121909212
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val) rs188677757
NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=) rs1751639731
NM_000358.3(TGFBI):c.1949C>T (p.Ala650Val) rs188333040
NM_000358.3(TGFBI):c.2001T>C (p.Ser667=) rs760016493
NM_000358.3(TGFBI):c.2040G>C (p.Arg680Ser) rs762051168
NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu) rs886059922
NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter) rs886059924
NM_000358.3(TGFBI):c.675C>A (p.Thr225=) rs886059925
NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp) rs886059926
NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter) rs1561611210
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
NM_000494.4(COL17A1):c.3071-5G>A rs370589324
NM_000494.4(COL17A1):c.4142C>T (p.Ser1381Leu) rs2086242885
NM_001083962.2(TCF4):c.-21+2T>A rs1568471128
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) rs755332116
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) rs1555796645
NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)
NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met) rs755379986
NM_001174089.2(SLC4A11):c.1742+8G>A rs2067679229
NM_001174089.2(SLC4A11):c.1923C>T (p.Ala641=) rs886056632
NM_001174089.2(SLC4A11):c.2011G>A (p.Glu671Lys) rs751718398
NM_001174089.2(SLC4A11):c.2058C>T (p.Leu686=) rs141079217
NM_001174089.2(SLC4A11):c.20G>T (p.Arg7Leu) rs2068078358
NM_001174089.2(SLC4A11):c.2216G>T (p.Arg739Leu) rs121909387
NM_001174089.2(SLC4A11):c.2286G>T (p.Trp762Cys) rs2067626997
NM_001174089.2(SLC4A11):c.2365G>A (p.Val789Met) rs145325200
NM_001174089.2(SLC4A11):c.2554A>G (p.Ile852Val) rs886056631
NM_001174089.2(SLC4A11):c.291+3G>A rs2067904587
NM_001174089.2(SLC4A11):c.322A>G (p.Ile108Val) rs773078769
NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys) rs1482631297
NM_001174089.2(SLC4A11):c.409C>T (p.Arg137Trp) rs773524307
NM_001174089.2(SLC4A11):c.44-24G>C rs747573446
NM_001174089.2(SLC4A11):c.515G>A (p.Arg172Gln) rs149016022
NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe) rs2122588507
NM_001174089.2(SLC4A11):c.691G>A (p.Val231Ile) rs886056633
NM_001368894.2(PAX6):c.*107G>C rs886048201
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*247T>A rs1468270124
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-167G>T rs1956928845
NM_001368894.2(PAX6):c.-501del rs886048208
NM_001368894.2(PAX6):c.-507T>C rs886048209
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.219G>A (p.Arg73=) rs1953969921
NM_001368894.2(PAX6):c.453G>A (p.Met151Ile) rs371018133
NM_001368894.2(PAX6):c.511G>A (p.Gly171Ser) rs1953501315
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.690C>T (p.Ser230=) rs373715028
NM_001368894.2(PAX6):c.81G>A (p.Gln27=) rs1954524676
NM_001368894.2(PAX6):c.885A>G (p.Thr295=) rs1592415376
NM_001386094.1(AGBL1):c.785A>C (p.Gln262Pro)
NM_001920.5(DCN):c.*289A>T rs886049889
NM_001920.5(DCN):c.*341A>G rs1880967544
NM_001920.5(DCN):c.*443T>G rs886049888
NM_001920.5(DCN):c.1062A>T (p.Gln354His) rs765239185
NM_001920.5(DCN):c.127G>A (p.Asp43Asn) rs1883428257
NM_001920.5(DCN):c.47_50del (p.Ala16fs) rs1565791154
NM_002353.2(TACSTD2):c.-112G>A rs1646892722
NM_002353.2(TACSTD2):c.-160C>G rs977480107
NM_002353.2(TACSTD2):c.-199G>A rs562217606
NM_002353.2(TACSTD2):c.-269G>C rs886046458
NM_002353.3(TACSTD2):c.*236C>G rs1646876980
NM_002353.3(TACSTD2):c.*298A>C rs866363830
NM_002353.3(TACSTD2):c.*645T>C rs1570021538
NM_002353.3(TACSTD2):c.-56C>T rs774270086
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034
NM_013319.2(UBIAD1):c.-337C>T rs547031506
NM_013319.3(UBIAD1):c.*1586C>T rs886045081
NM_013319.3(UBIAD1):c.*1779C>T rs886045083
NM_013319.3(UBIAD1):c.*1810del rs781564164
NM_013319.3(UBIAD1):c.*1811G>C rs867059451
NM_013319.3(UBIAD1):c.*221_*223del rs886045069
NM_013319.3(UBIAD1):c.*247T>C rs886045070
NM_013319.3(UBIAD1):c.*94G>A rs535726476
NM_013319.3(UBIAD1):c.*990T>C rs1638286979
NM_013319.3(UBIAD1):c.-310C>T rs1471509365
NM_013319.3(UBIAD1):c.-78G>C rs533754690
NM_013319.3(UBIAD1):c.-86G>C rs948937923
NM_013319.3(UBIAD1):c.191C>T (p.Pro64Leu) rs1651875842
NM_013319.3(UBIAD1):c.494T>G (p.Phe165Cys) rs886045058
NM_013319.3(UBIAD1):c.600G>A (p.Met200Ile) rs773070987
NM_013319.3(UBIAD1):c.711G>T (p.Met237Ile) rs776301691
NM_013319.3(UBIAD1):c.739A>G (p.Thr247Ala) rs1638253298
NM_014588.5(VSX1):c.-239G>C rs886056559
NM_014588.5(VSX1):c.-274_-270GGGGT[3] rs144366921
NM_014588.5(VSX1):c.-61C>G rs886056558
NM_014588.6(VSX1):c.*396T>G rs2089477655
NM_014588.6(VSX1):c.*610G>A rs760422181
NM_014588.6(VSX1):c.*88C>G rs886056556
NM_014588.6(VSX1):c.479G>A (p.Gly160Asp) rs74315433
NM_014588.6(VSX1):c.578C>T (p.Ala193Val) rs2089572820
NM_014588.6(VSX1):c.871C>T (p.Leu291Phe) rs762996146
NM_015040.4(PIKFYVE):c.*1001G>T rs886055541
NM_015040.4(PIKFYVE):c.*1196A>G rs886055542
NM_015040.4(PIKFYVE):c.*1382T>C rs892979377
NM_015040.4(PIKFYVE):c.*1429G>C rs886055543
NM_015040.4(PIKFYVE):c.*1552G>A rs1382245964
NM_015040.4(PIKFYVE):c.*1638del rs886055544
NM_015040.4(PIKFYVE):c.*2027C>T rs551912289
NM_015040.4(PIKFYVE):c.*2030G>C rs571740486
NM_015040.4(PIKFYVE):c.*2218A>T rs886055546
NM_015040.4(PIKFYVE):c.*2520T>A rs1296543469
NM_015040.4(PIKFYVE):c.*2520T>C rs1296543469
NM_015040.4(PIKFYVE):c.*2739A>C rs1208320222
NM_015040.4(PIKFYVE):c.*2763C>T rs1700260174
NM_015040.4(PIKFYVE):c.*3027A>C rs573143426
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT rs567074655
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT rs1553538567
NM_015040.4(PIKFYVE):c.*518C>T rs148739344
NM_015040.4(PIKFYVE):c.*720A>G rs886055537
NM_015040.4(PIKFYVE):c.*772dup rs886055538
NM_015040.4(PIKFYVE):c.*868T>C rs1167656721
NM_015040.4(PIKFYVE):c.*968G>T rs1700155137
NM_015040.4(PIKFYVE):c.-153A>T rs1037223631
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=) rs750959225
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His) rs886055530
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg) rs886055532
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile) rs1689715018
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser) rs1689422489
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr) rs1338276014
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu) rs371918240
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly) rs1346610853
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter) rs1559130873
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys) rs886055533
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=) rs766037305
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn) rs1698195187
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser) rs1698393358
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys) rs886055534
NM_015040.4(PIKFYVE):c.5716-4T>C rs1214631493
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG rs886048180
NM_019040.5(ELP4):c.*1615A>C rs1171230486
NM_019040.5(ELP4):c.*1626G>A rs1269133831
NM_019040.5(ELP4):c.*2041C>G rs544117348
NM_019040.5(ELP4):c.*2049A>G rs886048181
NM_019040.5(ELP4):c.*2282G>A rs886048182
NM_019040.5(ELP4):c.*2334T>G rs886048183
NM_019040.5(ELP4):c.*2407C>A rs886048184
NM_019040.5(ELP4):c.*2522G>T rs1948594512
NM_019040.5(ELP4):c.*2710CA[2] rs886048186
NM_019040.5(ELP4):c.*2992G>A rs1948639449
NM_019040.5(ELP4):c.*3588A>G rs906435505
NM_019040.5(ELP4):c.*3703_*3705del rs886048189
NM_019040.5(ELP4):c.*3706T>A rs1948715280
NM_019040.5(ELP4):c.*3715T>A rs558836571
NM_019040.5(ELP4):c.*3772G>C rs865924000
NM_019040.5(ELP4):c.*3978T>C rs886048192
NM_019040.5(ELP4):c.*4017A>G rs886048193
NM_019040.5(ELP4):c.*4025C>G rs886048195
NM_019040.5(ELP4):c.*4056G>A rs1948752515
NM_019040.5(ELP4):c.*4251G>A rs3026396
NM_019040.5(ELP4):c.*4542G>T rs1948792866
NM_021220.4(OVOL2):c.253G>C (p.Gly85Arg)
NM_021615.5(CHST6):c.*1058G>T rs137868909
NM_021615.5(CHST6):c.*1374C>T rs564966292
NM_021615.5(CHST6):c.*1474C>G rs886052309
NM_021615.5(CHST6):c.*1585G>T rs886052308
NM_021615.5(CHST6):c.*1597T>G rs866541400
NM_021615.5(CHST6):c.*1811G>A rs577093724
NM_021615.5(CHST6):c.*2080del rs36092135
NM_021615.5(CHST6):c.*242T>C rs886052319
NM_021615.5(CHST6):c.*2433A>C rs886052305
NM_021615.5(CHST6):c.*2437C>T rs886052304
NM_021615.5(CHST6):c.*2450C>G rs769668563
NM_021615.5(CHST6):c.*2902dup rs886052302
NM_021615.5(CHST6):c.*3078G>A rs375112875
NM_021615.5(CHST6):c.*33G>C rs376468061
NM_021615.5(CHST6):c.*3643_*3644del rs563605488
NM_021615.5(CHST6):c.*3656C>A rs2080051726
NM_021615.5(CHST6):c.*3679T>C rs886052299
NM_021615.5(CHST6):c.*3814C>G rs552475714
NM_021615.5(CHST6):c.*3947C>T rs564522593
NM_021615.5(CHST6):c.*3983G>A rs1051764829
NM_021615.5(CHST6):c.*4290A>C rs886052298
NM_021615.5(CHST6):c.*4460T>G rs2080042971
NM_021615.5(CHST6):c.*4494G>C rs2080042404
NM_021615.5(CHST6):c.*4573C>T rs138466889
NM_021615.5(CHST6):c.*4574G>C rs572586138
NM_021615.5(CHST6):c.*472G>C rs886052318
NM_021615.5(CHST6):c.*4749G>T rs184112375
NM_021615.5(CHST6):c.*488_*490del rs886052317
NM_021615.5(CHST6):c.*4981C>T rs532430246
NM_021615.5(CHST6):c.*5182C>G rs1008334355
NM_021615.5(CHST6):c.*5183G>A rs886052294
NM_021615.5(CHST6):c.*5190T>A rs2080036320
NM_021615.5(CHST6):c.*5311T>C rs2080035371
NM_021615.5(CHST6):c.*68G>T rs968538456
NM_021615.5(CHST6):c.-66C>G rs886052323
NM_021615.5(CHST6):c.1030C>T (p.Arg344Cys) rs745660697
NM_021615.5(CHST6):c.1033G>A (p.Val345Met)
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)
NM_021615.5(CHST6):c.1096G>A (p.Glu366Lys) rs369592422
NM_021615.5(CHST6):c.1132C>T (p.Arg378Ter)
NM_021615.5(CHST6):c.14G>C (p.Arg5Pro) rs1438351052
NM_021615.5(CHST6):c.196G>C (p.Val66Leu) rs72547547
NM_021615.5(CHST6):c.24C>T (p.Ser8=) rs1461106668
NM_021615.5(CHST6):c.260C>T (p.Thr87Met)
NM_021615.5(CHST6):c.307G>A (p.Asp103Asn) rs2151666243
NM_021615.5(CHST6):c.323A>T (p.Asp108Val)
NM_021615.5(CHST6):c.355G>C (p.Asp119His) rs2080111143
NM_021615.5(CHST6):c.400G>A (p.Ala134Thr) rs745598168
NM_021615.5(CHST6):c.464G>T (p.Arg155Leu)
NM_021615.5(CHST6):c.484C>A (p.Arg162=) rs117435647
NM_021615.5(CHST6):c.485G>A (p.Arg162Gln)
NM_021615.5(CHST6):c.494_495delinsCT (p.Cys165Ser) rs2080109094
NM_021615.5(CHST6):c.532T>G (p.Phe178Val) rs1567409280
NM_021615.5(CHST6):c.573C>G (p.Pro191=) rs1044185449
NM_021615.5(CHST6):c.625C>T (p.Arg209Cys)
NM_021615.5(CHST6):c.713G>A (p.Gly238Asp)
NM_021615.5(CHST6):c.718C>A (p.Arg240Ser) rs547928453
NM_021615.5(CHST6):c.7C>A (p.Leu3Met) rs780317850
NM_021615.5(CHST6):c.86C>T (p.Pro29Leu) rs1443299574
NM_021615.5(CHST6):c.949G>C (p.Glu317Gln)
NM_021615.5(CHST6):c.987C>T (p.Val329=) rs369751938
NM_021615.5(CHST6):c.992A>G (p.Gln331Arg)
NM_024915.4(GRHL2):c.1723G>A (p.Val575Met) rs370196002
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys) rs1597390369
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723
NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr) rs1939636114
NM_152336.4(AGBL1):c.3323+1G>A rs79072327
NM_198252.3(GSN):c.*28G>A rs376801564
NM_198252.3(GSN):c.-4C>G rs2059919681
NM_198252.3(GSN):c.-9-1999_-9-1985del rs751499422
NM_198252.3(GSN):c.-9-2043C>G rs1202263036
NM_198252.3(GSN):c.-9-2057_-9-2037del rs762432847
NM_198252.3(GSN):c.-9-2057_-9-2037dup rs762432847
NM_198252.3(GSN):c.-9-2058_-9-2047dup rs1371504521
NM_198252.3(GSN):c.-9-2066_-9-2060del rs1564468965
NM_198252.3(GSN):c.-9-2091_-9-2064del rs764841269
NM_198252.3(GSN):c.-9-2137C>T rs886063404
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) rs2062427908
NM_198252.3(GSN):c.1326-1036C>T
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) rs780840732
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) rs146365204
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) rs2063344146
NM_198252.3(GSN):c.1850G>A (p.Arg617His) rs9696578
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) rs2133938132
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) rs886063407
NM_198252.3(GSN):c.2137del (p.Asp713fs) rs750858951
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) rs138153246
NM_198252.3(GSN):c.397G>A (p.Val133Met) rs368197143
NM_198252.3(GSN):c.397G>T (p.Val133Leu) rs368197143
NM_198252.3(GSN):c.440T>C (p.Val147Ala) rs2061027102
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) rs1355688870
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) rs2061035565
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) rs756193920
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) rs2061970047
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) rs751431867
NM_198252.3(GSN):c.998G>T (p.Gly333Val) rs1014328091
NM_207352.4(CYP4V2):c.*1027C>T rs541778964
NM_207352.4(CYP4V2):c.*1052A>T rs961919705
NM_207352.4(CYP4V2):c.*1317T>C rs886059291
NM_207352.4(CYP4V2):c.*1496G>C rs1736743651
NM_207352.4(CYP4V2):c.*1705C>T rs1736750061
NM_207352.4(CYP4V2):c.*1722T>C rs1736750645
NM_207352.4(CYP4V2):c.*198A>T rs150697121
NM_207352.4(CYP4V2):c.*204T>C rs577711483
NM_207352.4(CYP4V2):c.*2116A>C rs1736768091
NM_207352.4(CYP4V2):c.*2751A>G rs963988307
NM_207352.4(CYP4V2):c.*364T>A rs7697077
NM_207352.4(CYP4V2):c.*449C>T rs1736705065
NM_207352.4(CYP4V2):c.*636A>G rs1736711167
NM_207352.4(CYP4V2):c.*659A>G rs886059284
NM_207352.4(CYP4V2):c.*829C>T rs886059285
NM_207352.4(CYP4V2):c.*836C>A rs535179510
NM_207352.4(CYP4V2):c.*888G>A rs769774997
NM_207352.4(CYP4V2):c.*999C>T rs556923527
NM_207352.4(CYP4V2):c.-133G>T rs562885669
NM_207352.4(CYP4V2):c.-199C>T rs886059278
NM_207352.4(CYP4V2):c.-56C>G rs886059280
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=) rs1736463662
NM_207352.4(CYP4V2):c.1091-15A>G rs1300763823
NM_207352.4(CYP4V2):c.1225+14A>G rs886059282
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn) rs913510827
NM_207352.4(CYP4V2):c.987+7T>C rs1736302352

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