ClinVar Miner

List of variants in gene CDHR1 studied for Cone-Rod Dystrophy, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP
NM_033100.4(CDHR1):c.*1008A>G rs549785373
NM_033100.4(CDHR1):c.*1055C>T rs117975094
NM_033100.4(CDHR1):c.*1082A>C rs886047340
NM_033100.4(CDHR1):c.*1174G>A rs886047341
NM_033100.4(CDHR1):c.*1252C>T rs192276321
NM_033100.4(CDHR1):c.*1260C>T rs886047342
NM_033100.4(CDHR1):c.*134C>T rs41291356
NM_033100.4(CDHR1):c.*1356A>G rs886047343
NM_033100.4(CDHR1):c.*1383dup rs147801078
NM_033100.4(CDHR1):c.*1467T>A rs4933979
NM_033100.4(CDHR1):c.*1487C>A rs768873138
NM_033100.4(CDHR1):c.*1534A>G rs886047345
NM_033100.4(CDHR1):c.*167A>T rs41309994
NM_033100.4(CDHR1):c.*1694T>C rs140640986
NM_033100.4(CDHR1):c.*1737C>T rs181800100
NM_033100.4(CDHR1):c.*173C>A rs41291358
NM_033100.4(CDHR1):c.*1819C>T rs750723702
NM_033100.4(CDHR1):c.*1914C>G rs553379136
NM_033100.4(CDHR1):c.*1915C>A rs41291362
NM_033100.4(CDHR1):c.*2017C>T rs74619906
NM_033100.4(CDHR1):c.*2019A>G rs546338766
NM_033100.4(CDHR1):c.*2226C>T rs74584525
NM_033100.4(CDHR1):c.*2296G>C rs886047346
NM_033100.4(CDHR1):c.*2351G>A rs570983583
NM_033100.4(CDHR1):c.*2357G>A rs140766042
NM_033100.4(CDHR1):c.*2428G>A rs886047347
NM_033100.4(CDHR1):c.*242T>G rs886047331
NM_033100.4(CDHR1):c.*245C>T rs74574460
NM_033100.4(CDHR1):c.*2493C>T rs113121685
NM_033100.4(CDHR1):c.*2560C>T rs886047348
NM_033100.4(CDHR1):c.*2577G>C rs886047349
NM_033100.4(CDHR1):c.*2588A>C rs1059341
NM_033100.4(CDHR1):c.*2589G>A rs56127582
NM_033100.4(CDHR1):c.*2643A>T rs1059342
NM_033100.4(CDHR1):c.*269C>T rs375246992
NM_033100.4(CDHR1):c.*2704_*2715delinsATTA rs886047350
NM_033100.4(CDHR1):c.*305C>G rs41291360
NM_033100.4(CDHR1):c.*335dup rs886047332
NM_033100.4(CDHR1):c.*342C>G rs7908492
NM_033100.4(CDHR1):c.*394G>A rs7907675
NM_033100.4(CDHR1):c.*4A>G rs3814212
NM_033100.4(CDHR1):c.*503C>T rs7908753
NM_033100.4(CDHR1):c.*511G>A rs377102711
NM_033100.4(CDHR1):c.*583G>A rs886047333
NM_033100.4(CDHR1):c.*599_*602del rs752991304
NM_033100.4(CDHR1):c.*631C>G rs886047335
NM_033100.4(CDHR1):c.*838G>T rs886047336
NM_033100.4(CDHR1):c.*869T>G rs6585845
NM_033100.4(CDHR1):c.*878C>T rs758809572
NM_033100.4(CDHR1):c.*893C>T rs6585846
NM_033100.4(CDHR1):c.*907G>A rs12356218
NM_033100.4(CDHR1):c.*914C>A rs886047337
NM_033100.4(CDHR1):c.*927T>C rs886047338
NM_033100.4(CDHR1):c.*935C>T rs560033657
NM_033100.4(CDHR1):c.*937C>T rs886047339
NM_033100.4(CDHR1):c.-1C>T rs114273269
NM_033100.4(CDHR1):c.-33C>T rs543373757
NM_033100.4(CDHR1):c.-64G>A rs531194884
NM_033100.4(CDHR1):c.1050G>A (p.Pro350=) rs199721776
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811
NM_033100.4(CDHR1):c.1072G>A (p.Gly358Arg) rs140077265
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272
NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr) rs138182270
NM_033100.4(CDHR1):c.1206C>T (p.Pro402=) rs149181127
NM_033100.4(CDHR1):c.1320+11C>T rs201940855
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=) rs542195636
NM_033100.4(CDHR1):c.138G>A (p.Glu46=) rs886047322
NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile) rs756095042
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212
NM_033100.4(CDHR1):c.1464C>T (p.Gly488=) rs193142630
NM_033100.4(CDHR1):c.1470C>T (p.Ser490=) rs150577739
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.152-9T>C rs754726772
NM_033100.4(CDHR1):c.1553+6T>C rs199567321
NM_033100.4(CDHR1):c.1589C>G (p.Thr530Ser) rs140097244
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482
NM_033100.4(CDHR1):c.1730G>A (p.Gly577Glu) rs761537924
NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr) rs141250715
NM_033100.4(CDHR1):c.1854C>T (p.Asn618=) rs373373894
NM_033100.4(CDHR1):c.1867A>G (p.Asn623Asp) rs754717589
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033100.4(CDHR1):c.1873C>G (p.His625Asp) rs149043166
NM_033100.4(CDHR1):c.1982G>C (p.Arg661Pro) rs150840551
NM_033100.4(CDHR1):c.2001C>T (p.Ser667=) rs139302633
NM_033100.4(CDHR1):c.2027T>A (p.Ile676Asn) rs186486854
NM_033100.4(CDHR1):c.2041-15G>A rs61867367
NM_033100.4(CDHR1):c.2161A>G (p.Thr721Ala) rs886047328
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561
NM_033100.4(CDHR1):c.2184G>C (p.Lys728Asn) rs886047329
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538
NM_033100.4(CDHR1):c.2292T>C (p.Ala764=) rs886047330
NM_033100.4(CDHR1):c.2367G>A (p.Pro789=) rs150097621
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005
NM_033100.4(CDHR1):c.2430C>A (p.Thr810=) rs149954991
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213
NM_033100.4(CDHR1):c.2462A>G (p.Gln821Arg) rs375803729
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_033100.4(CDHR1):c.297+6G>A rs79239487
NM_033100.4(CDHR1):c.364G>A (p.Val122Met) rs886047324
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234
NM_033100.4(CDHR1):c.439-12T>C rs886047325
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715
NM_033100.4(CDHR1):c.526-14C>A rs745955360
NM_033100.4(CDHR1):c.526-7C>G rs190906755
NM_033100.4(CDHR1):c.542T>C (p.Phe181Ser) rs184241207
NM_033100.4(CDHR1):c.547G>A (p.Val183Met) rs142109115
NM_033100.4(CDHR1):c.601G>A (p.Glu201Lys) rs200646223
NM_033100.4(CDHR1):c.640-14C>T rs376451005
NM_033100.4(CDHR1):c.700G>A (p.Val234Ile) rs148356887
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200
NM_033100.4(CDHR1):c.739G>T (p.Val247Leu) rs184579670
NM_033100.4(CDHR1):c.783+11G>A rs767235020
NM_033100.4(CDHR1):c.783+3G>A rs759265185
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033100.4(CDHR1):c.848A>G (p.Tyr283Cys) rs886047326
NM_033100.4(CDHR1):c.863-9C>T rs4933977
NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly) rs574920135
NM_033100.4(CDHR1):c.886A>G (p.Asn296Asp) rs562607967
NM_033100.4(CDHR1):c.964-10C>T rs886047327
NM_033100.4(CDHR1):c.983C>T (p.Ala328Val) rs749657135

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.