ClinVar Miner

List of variants in gene CRX

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 511
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000554.6(CRX):c.253-213G>C rs8100405 0.47359
NM_000554.6(CRX):c.253-282G>A rs60934372 0.43795
NM_000554.6(CRX):c.253-235C>T rs59440203 0.43708
NM_000554.6(CRX):c.253-242C>T rs59657689 0.43702
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_000554.6(CRX):c.101-200T>C rs3745752 0.34347
NM_000554.6(CRX):c.252+203T>A rs12985683 0.32944
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_000554.6(CRX):c.*401A>C rs3848537 0.31847
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_000554.6(CRX):c.-35-150T>C rs4801737 0.12303
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_000554.6(CRX):c.-35-120A>G rs3760817 0.03727
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.*436G>T rs759530877 0.01473
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_000554.6(CRX):c.*2739G>A rs149039830 0.00452
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_000554.6(CRX):c.*767G>A rs544037698 0.00339
NM_000554.6(CRX):c.*2137G>A rs181823708 0.00337
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_000554.6(CRX):c.*756T>A rs886054553 0.00270
NM_000554.6(CRX):c.*839C>T rs541379131 0.00239
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.*595C>T rs111448395 0.00176
NM_000554.6(CRX):c.*2039C>T rs189556251 0.00156
NM_000554.6(CRX):c.*683G>A rs867379668 0.00149
NM_000554.6(CRX):c.*996C>G rs550939154 0.00129
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_000554.6(CRX):c.*727C>T rs1360823353 0.00103
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_000554.6(CRX):c.*2113A>G rs555800382 0.00065
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000554.6(CRX):c.*1684G>A rs141564522 0.00058
NM_000554.6(CRX):c.*392G>A rs886054550 0.00043
NM_000554.6(CRX):c.*2821G>A rs571610746 0.00041
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.*117T>A rs574641672 0.00030
NM_000554.6(CRX):c.*118C>A rs543729483 0.00030
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_000554.6(CRX):c.22G>C (p.Gly8Arg) rs146240568 0.00023
NM_000554.6(CRX):c.309G>A (p.Gln103=) rs138242846 0.00023
NM_000554.6(CRX):c.-46C>T rs755040084 0.00022
NM_000554.6(CRX):c.778G>A (p.Ala260Thr) rs370592248 0.00021
NM_000554.6(CRX):c.203C>T (p.Ala68Val) rs145649717 0.00020
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_000554.6(CRX):c.*205G>A rs995250251 0.00018
NM_000554.6(CRX):c.*1759G>T rs886054558 0.00017
NM_000554.6(CRX):c.*2404C>T rs544403161 0.00016
NM_000554.6(CRX):c.*907C>T rs559582292 0.00015
NM_000554.6(CRX):c.*746T>C rs886054552 0.00014
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_000554.6(CRX):c.*2402G>T rs901623400 0.00012
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_000554.6(CRX):c.537G>A (p.Leu179=) rs753262074 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_000554.6(CRX):c.*809C>G rs574128797 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_000554.6(CRX):c.564C>T (p.Ser188=) rs148622001 0.00009
NM_000554.6(CRX):c.790G>A (p.Val264Met) rs138146799 0.00009
NM_000554.6(CRX):c.*2343G>A rs928747077 0.00008
NM_000554.6(CRX):c.100+8C>T rs375411321 0.00007
NM_000554.6(CRX):c.159G>A (p.Glu53=) rs767773596 0.00007
NM_000554.6(CRX):c.253-11T>C rs199991284 0.00007
NM_000554.6(CRX):c.565G>A (p.Ala189Thr) rs142111462 0.00007
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_000554.6(CRX):c.*1917G>A rs557773336 0.00006
NM_000554.6(CRX):c.*2539C>T rs146417527 0.00006
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.311A>G (p.Gln104Arg) rs769592519 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_000554.6(CRX):c.*2357G>A rs1053302157 0.00005
NM_000554.6(CRX):c.*498G>A rs1004933827 0.00005
NM_000554.6(CRX):c.101-6C>T rs781316943 0.00005
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_000554.6(CRX):c.344G>A (p.Arg115Gln) rs750727986 0.00005
NM_000554.6(CRX):c.369G>A (p.Thr123=) rs368752695 0.00005
NM_000554.6(CRX):c.552G>A (p.Pro184=) rs779118593 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000554.6(CRX):c.774T>C (p.Tyr258=) rs767273026 0.00005
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) rs760741667 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.42C>T (p.Asn14=) rs774344094 0.00004
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) rs1039194669 0.00004
NM_000554.6(CRX):c.568C>T (p.Pro190Ser) rs151169551 0.00004
NM_000554.6(CRX):c.585C>T (p.Tyr195=) rs373497612 0.00004
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) rs376982187 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_000554.6(CRX):c.648C>T (p.Ser216=) rs772398140 0.00004
NM_000554.6(CRX):c.720C>G (p.Pro240=) rs748655180 0.00004
NM_000554.6(CRX):c.789C>T (p.Pro263=) rs550083287 0.00004
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203 0.00004
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) rs781577708 0.00004
NM_000554.6(CRX):c.9G>A (p.Ala3=) rs140766502 0.00004
NM_000554.6(CRX):c.*132G>A rs886054548 0.00003
NM_000554.6(CRX):c.*2573C>T rs886054559 0.00003
NM_000554.6(CRX):c.*2889G>A rs886054561 0.00003
NM_000554.6(CRX):c.100+13G>A rs770361425 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_000554.6(CRX):c.464C>T (p.Thr155Met) rs753466818 0.00003
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) rs146869548 0.00003
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_000554.6(CRX):c.*366C>T rs560185740 0.00002
NM_000554.6(CRX):c.166G>A (p.Ala56Thr) rs61748437 0.00002
NM_000554.6(CRX):c.206G>A (p.Arg69His) rs775073228 0.00002
NM_000554.6(CRX):c.21G>A (p.Pro7=) rs772745666 0.00002
NM_000554.6(CRX):c.252+8G>C rs773348946 0.00002
NM_000554.6(CRX):c.253-16C>T rs372605680 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) rs745628043 0.00002
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) rs779912365 0.00002
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) rs773154643 0.00002
NM_000554.6(CRX):c.521C>T (p.Ala174Val) rs771028537 0.00002
NM_000554.6(CRX):c.594C>T (p.Ala198=) rs1186532132 0.00002
NM_000554.6(CRX):c.747C>G (p.Ser249=) rs748748807 0.00002
NM_000554.6(CRX):c.*252C>T rs886054549 0.00001
NM_000554.6(CRX):c.*2544G>A rs1281739542 0.00001
NM_000554.6(CRX):c.*2785C>T rs886054560 0.00001
NM_000554.6(CRX):c.*79C>T rs769100863 0.00001
NM_000554.6(CRX):c.*908G>A rs886054554 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_000554.6(CRX):c.119G>A (p.Arg40Gln) rs771450991 0.00001
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys) rs1211313175 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_000554.6(CRX):c.128G>A (p.Arg43His) rs771736389 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) rs761797993 0.00001
NM_000554.6(CRX):c.195C>T (p.Asp65=) rs757731373 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) rs1568624864 0.00001
NM_000554.6(CRX):c.253-7C>G rs754128724 0.00001
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) rs1209634994 0.00001
NM_000554.6(CRX):c.273G>A (p.Arg91=) rs1254989456 0.00001
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) rs1056691132 0.00001
NM_000554.6(CRX):c.363G>A (p.Ala121=) rs141888455 0.00001
NM_000554.6(CRX):c.367A>G (p.Thr123Ala) rs755554804 0.00001
NM_000554.6(CRX):c.378A>C (p.Arg126Ser) rs1311901864 0.00001
NM_000554.6(CRX):c.412A>G (p.Ile138Val) rs373934471 0.00001
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) rs149300196 0.00001
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) rs1173779531 0.00001
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) rs559181643 0.00001
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) rs559181643 0.00001
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) rs543243551 0.00001
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) rs758125850 0.00001
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) rs559042370 0.00001
NM_000554.6(CRX):c.673A>C (p.Met225Leu) rs765976845 0.00001
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) rs1461832129 0.00001
NM_000554.6(CRX):c.696G>A (p.Pro232=) rs1466177047 0.00001
NM_000554.6(CRX):c.726G>A (p.Val242=) rs371406142 0.00001
NM_000554.6(CRX):c.740C>T (p.Ala247Val) rs1196719242 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) rs1968173706 0.00001
NM_000554.6(CRX):c.846C>A (p.Pro282=) rs1172429450 0.00001
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_000554.6(CRX):c.8C>T (p.Ala3Val) rs762715327 0.00001
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
NC_000019.10:g.(?_47834444)_(47836394_?)del
NC_000019.10:g.(?_47839300)_(47839987_?)del
NC_000019.10:g.(?_47839320)_(47839967_?)del
NC_000019.9:g.(?_48337701)_(48337820_?)del
NC_000019.9:g.(?_48337701)_(48339671_?)dup
NC_000019.9:g.(?_48337701)_(48343224_?)del
NC_000019.9:g.(?_48339480)_(48343224_?)del
NC_000019.9:g.(?_48339500)_(48343224_?)del
NC_000019.9:g.(?_48342557)_(48343224_?)dup
NM_000554.4:c.(?_-1)_(*1_?)dup
NM_000554.6(CRX):c.*110C>A rs1968176550
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*1223A>G rs1968192567
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*1330C>T rs1049141176
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2225A>G rs1968205705
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2580G>A rs1968211334
NM_000554.6(CRX):c.*272T>C rs1286758532
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2935G>T rs1968215891
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*2979T>C rs1968216535
NM_000554.6(CRX):c.*3077C>G rs965939233
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000554.6(CRX):c.*3099C>T rs1968218106
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.-29T>A rs1568624071
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.100+1G>C rs878853384
NM_000554.6(CRX):c.100+2T>C rs281865198
NM_000554.6(CRX):c.100+2T>G
NM_000554.6(CRX):c.100+3G>C rs1568624171
NM_000554.6(CRX):c.100+3_100+5delinsTTA rs1064796109
NM_000554.6(CRX):c.100+5G>A
NM_000554.6(CRX):c.100+97G>A rs62128767
NM_000554.6(CRX):c.101-10C>T
NM_000554.6(CRX):c.101-13C>G rs281865199
NM_000554.6(CRX):c.101-147A>G rs2123739726
NM_000554.6(CRX):c.101-1G>A rs1968115710
NM_000554.6(CRX):c.101-1G>T rs1968115710
NM_000554.6(CRX):c.101-3del rs727503894
NM_000554.6(CRX):c.101-65A>T rs281865200
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
NM_000554.6(CRX):c.107C>A (p.Pro36His) rs193920917
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.109A>C (p.Arg37=)
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
NM_000554.6(CRX):c.123G>A (p.Arg41=) rs181068147
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) rs1437021651
NM_000554.6(CRX):c.127C>T (p.Arg43Cys) rs1437021651
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) rs771736389
NM_000554.6(CRX):c.129C>T (p.Arg43=) rs775065439
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
NM_000554.6(CRX):c.138C>T (p.Phe46=)
NM_000554.6(CRX):c.139A>C (p.Thr47Pro) rs1939392843
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
NM_000554.6(CRX):c.151C>T (p.Leu51=)
NM_000554.6(CRX):c.152_153del (p.Leu51fs) rs1968116898
NM_000554.6(CRX):c.159del (p.Glu53fs)
NM_000554.6(CRX):c.164dup (p.Ala56fs) rs1555801777
NM_000554.6(CRX):c.165G>A (p.Glu55=)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.177C>T (p.Ala59=)
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) rs1599985527
NM_000554.6(CRX):c.191del (p.Pro64fs) rs1968117526
NM_000554.6(CRX):c.193G>C (p.Asp65His) rs527236062
NM_000554.6(CRX):c.196G>T (p.Val66Phe) rs61748438
NM_000554.6(CRX):c.198C>T (p.Val66=)
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
NM_000554.6(CRX):c.213G>A (p.Glu71=)
NM_000554.6(CRX):c.216G>A (p.Val72=) rs2123739992
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) rs2123740000
NM_000554.6(CRX):c.232C>T (p.Leu78=)
NM_000554.6(CRX):c.238G>A (p.Glu80Lys) rs62654391
NM_000554.6(CRX):c.239A>C (p.Glu80Ala) rs104894671
NM_000554.6(CRX):c.239A>G (p.Glu80Gly) rs104894671
NM_000554.6(CRX):c.240G>A (p.Glu80=)
NM_000554.6(CRX):c.24dup (p.Pro9fs) rs62636512
NM_000554.6(CRX):c.252+18_252+24del rs2123740025
NM_000554.6(CRX):c.253-18T>A rs281865201
NM_000554.6(CRX):c.253-1G>T
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) rs1968160766
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) rs2123738269
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) rs1968160874
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer) rs1968160841
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.267C>T (p.Asn89=)
NM_000554.6(CRX):c.270G>C (p.Arg90=)
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) rs786205521
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
NM_000554.6(CRX):c.292C>T (p.Arg98Ter) rs751018117
NM_000554.6(CRX):c.295C>T (p.Gln99Ter) rs1555801963
NM_000554.6(CRX):c.29A>G (p.His10Arg) rs754630141
NM_000554.6(CRX):c.313C>T (p.Gln105Ter) rs1968162133
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.327G>A (p.Gly109=) rs1029300491
NM_000554.6(CRX):c.339G>A (p.Lys113=) rs761978269
NM_000554.6(CRX):c.340G>T (p.Ala114Ser)
NM_000554.6(CRX):c.342C>T (p.Ala114=)
NM_000554.6(CRX):c.345G>A (p.Arg115=) rs1968162928
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) rs1599991109
NM_000554.6(CRX):c.351dup (p.Lys118fs) rs61748440
NM_000554.6(CRX):c.360G>A (p.Lys120=)
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.372C>A (p.Ser124=) rs755797220
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) rs1299569341
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
NM_000554.6(CRX):c.380C>A (p.Pro127His) rs1968163788
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.381dup (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.390T>C (p.Asp130=)
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.403C>A (p.Pro135Thr) rs572439956
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) rs2123743010
NM_000554.6(CRX):c.404del (p.Pro135fs) rs1064797246
NM_000554.6(CRX):c.406C>T (p.Leu136=)
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.408G>C (p.Leu136=)
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) rs373281561
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) rs774344094
NM_000554.6(CRX):c.431_434del (p.Pro144fs) rs1968165008
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del) rs281865202
NM_000554.6(CRX):c.437_449del (p.Leu146fs) rs1968165080
NM_000554.6(CRX):c.441C>A (p.Pro147=)
NM_000554.6(CRX):c.441C>T (p.Pro147=) rs147422878
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) rs760080266
NM_000554.6(CRX):c.443del (p.Gly148fs) rs1968165374
NM_000554.6(CRX):c.445_467del (p.Pro149fs)
NM_000554.6(CRX):c.447dup (p.Ser150fs) rs61748444
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.448del (p.Ser150fs) rs886044121
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.450del (p.Gly151fs) rs1968165665
NM_000554.6(CRX):c.458del (p.Pro153fs) rs1968165787
NM_000554.6(CRX):c.462C>T (p.Thr154=) rs2123743108
NM_000554.6(CRX):c.463dup (p.Thr155fs) rs2123743110
NM_000554.6(CRX):c.480_481del (p.Ser161fs) rs1599991538
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) rs1968166379
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer) rs1599991611
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.501dup (p.Glu168fs) rs1968166700
NM_000554.6(CRX):c.502del (p.Glu168fs) rs1568626209
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.505del (p.Ser169fs) rs61748447
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.522G>A (p.Ala174=) rs376827106
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) rs2123743198
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) rs543243551
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.52C>T (p.Leu18=)
NM_000554.6(CRX):c.531T>C (p.Ala177=)
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) rs926713896
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) rs2123743219
NM_000554.6(CRX):c.534G>C (p.Gly178=)
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.541del (p.Ala181fs) rs61748450
NM_000554.6(CRX):c.543C>A (p.Ala181=)
NM_000554.6(CRX):c.545C>G (p.Ser182Ter) rs2123743235
NM_000554.6(CRX):c.549del (p.Pro184fs) rs1968167603
NM_000554.6(CRX):c.549dup (p.Pro184fs)
NM_000554.6(CRX):c.551dup (p.Ser185fs)
NM_000554.6(CRX):c.555T>A (p.Ser185=)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.564del (p.Ala189fs) rs2123743284
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
NM_000554.6(CRX):c.570C>A (p.Pro190=) rs1599991852
NM_000554.6(CRX):c.570del (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.571del (p.Tyr191fs) rs61748452
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
NM_000554.6(CRX):c.578T>A (p.Met193Lys) rs771206912
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) rs774657041
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) rs373497612
NM_000554.6(CRX):c.585dup (p.Ala196fs) rs61748453
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
NM_000554.6(CRX):c.586_587del (p.Ala196fs) rs2123743320
NM_000554.6(CRX):c.586del (p.Ala196fs) rs1968169004
NM_000554.6(CRX):c.587C>T (p.Ala196Val) rs1372852556
NM_000554.6(CRX):c.587_590del (p.Ala196fs) rs61748454
NM_000554.6(CRX):c.590del (p.Pro197fs) rs1968169100
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.593C>T (p.Ala198Val) rs776232503
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
NM_000554.6(CRX):c.60C>G (p.Gly20=) rs769017861
NM_000554.6(CRX):c.60C>T (p.Gly20=)
NM_000554.6(CRX):c.615del (p.Ser206fs) rs281865516
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs) rs1968170098
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter) rs2123743395
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) rs1968170166
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
NM_000554.6(CRX):c.633G>A (p.Pro211=)
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
NM_000554.6(CRX):c.660C>G (p.Pro220=)
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter) rs1064797247
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
NM_000554.6(CRX):c.673A>G (p.Met225Val)
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
NM_000554.6(CRX):c.678G>A (p.Val226=)
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) rs1968171338
NM_000554.6(CRX):c.685C>A (p.Leu229Ile)
NM_000554.6(CRX):c.690G>T (p.Gly230=) rs936709261
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.702T>C (p.Leu234=) rs992252014
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
NM_000554.6(CRX):c.709del (p.Leu237fs) rs281865518
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) rs1968172066
NM_000554.6(CRX):c.714del (p.Gly239fs)
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
NM_000554.6(CRX):c.723C>T (p.Ser241=) rs770257260
NM_000554.6(CRX):c.727G>T (p.Gly243Ter)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.733T>C (p.Ser245Pro) rs1555802042
NM_000554.6(CRX):c.734C>A (p.Ser245Tyr) rs2123743557
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
NM_000554.6(CRX):c.761C>T (p.Ser254Leu)
NM_000554.6(CRX):c.761_804dup (p.Phe269fs)
NM_000554.6(CRX):c.766C>T (p.Gln256Ter) rs1968173024
NM_000554.6(CRX):c.76_80del (p.Met26fs) rs2123738324
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter) rs767273026
NM_000554.6(CRX):c.777C>T (p.Gly259=)
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) rs2123743638
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
NM_000554.6(CRX):c.786C>T (p.Ser262=)
NM_000554.6(CRX):c.789del (p.Val264fs) rs281865519
NM_000554.6(CRX):c.790G>T (p.Val264Leu) rs138146799
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.794A>T (p.Asp265Val) rs2123743660
NM_000554.6(CRX):c.798del (p.Leu267fs) rs2123743667
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) rs2123743672
NM_000554.6(CRX):c.811G>A (p.Asp271Asn)
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs) rs2123743692
NM_000554.6(CRX):c.816del (p.Thr273fs) rs1968173864
NM_000554.6(CRX):c.81C>T (p.His27=) rs2123738329
NM_000554.6(CRX):c.827G>A (p.Trp276Ter) rs1599992622
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) rs2123743725
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
NM_000554.6(CRX):c.852C>T (p.Asp284=) rs771721958
NM_000554.6(CRX):c.856C>T (p.Leu286=) rs2123743743
NM_000554.6(CRX):c.856_865delinsGATCCC (p.Leu286fs) rs1555802058
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) rs2123743754
NM_000554.6(CRX):c.873G>T (p.Gln291His) rs1968174829
NM_000554.6(CRX):c.876T>C (p.Ser292=) rs2123743757
NM_000554.6(CRX):c.879C>G (p.Ala293=)
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) rs2123743769
NM_000554.6(CRX):c.894C>A (p.Ile298=)
NM_000554.6(CRX):c.898T>C (p.Ter300Gln) rs1599992745
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
NM_000554.6(CRX):c.[101-1G>A];[122G>A]

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.