ClinVar Miner

List of variants in gene GPHN, RDH12, ZFYVE26 studied for Leber congenital amaurosis

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.659-12T>C rs77686476 0.00091
NM_152443.3(RDH12):c.848+14A>C rs535122314 0.00058
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile) rs769317754 0.00014
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr) rs376787473 0.00004
NM_152443.3(RDH12):c.849-19G>A rs765865143 0.00004
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_152443.3(RDH12):c.698T>A (p.Val233Asp) rs144148976 0.00003
NM_152443.3(RDH12):c.844T>G (p.Phe282Val) rs756887056 0.00003
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr) rs746131696 0.00003
NM_152443.3(RDH12):c.759C>T (p.Pro253=) rs537229899 0.00002
NM_152443.3(RDH12):c.659-10T>C rs754817805 0.00001
NM_152443.3(RDH12):c.663C>T (p.Thr221=) rs777417667 0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313 0.00001
NM_152443.3(RDH12):c.684G>T (p.Val228=) rs1187659538 0.00001
NM_152443.3(RDH12):c.709C>G (p.Leu237Val) rs1377743038 0.00001
NM_152443.3(RDH12):c.745C>T (p.Arg249Trp) rs1452061026 0.00001
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe) rs777424197 0.00001
NM_152443.3(RDH12):c.749T>C (p.Leu250Pro) rs1318963464 0.00001
NM_152443.3(RDH12):c.765C>T (p.Val255=) rs1338104903 0.00001
NM_152443.3(RDH12):c.771G>C (p.Thr257=) rs1035808739 0.00001
NM_152443.3(RDH12):c.777G>C (p.Arg259=) rs748496027 0.00001
NM_152443.3(RDH12):c.794G>C (p.Ser265Thr) rs766633594 0.00001
NM_152443.3(RDH12):c.795C>T (p.Ser265=) rs774560862 0.00001
NM_152443.3(RDH12):c.822G>A (p.Leu274=) rs1406114680 0.00001
NM_152443.3(RDH12):c.849-4C>T rs1259469107 0.00001
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp) rs773048895 0.00001
NM_152443.3(RDH12):c.*1C>G rs2038317945
NM_152443.3(RDH12):c.659-11C>T
NM_152443.3(RDH12):c.659-11_659-10del
NM_152443.3(RDH12):c.659-14C>T
NM_152443.3(RDH12):c.659-15C>A rs1297430265
NM_152443.3(RDH12):c.659-16G>A
NM_152443.3(RDH12):c.659-1G>A
NM_152443.3(RDH12):c.659-20T>C
NM_152443.3(RDH12):c.659-2A>C rs2038231425
NM_152443.3(RDH12):c.659-2A>T rs2038231425
NM_152443.3(RDH12):c.659-3C>T
NM_152443.3(RDH12):c.659-7G>C
NM_152443.3(RDH12):c.659-9T>C
NM_152443.3(RDH12):c.660C>A (p.Gly220=)
NM_152443.3(RDH12):c.663C>A (p.Thr221=)
NM_152443.3(RDH12):c.664G>A (p.Gly222Arg)
NM_152443.3(RDH12):c.664G>T (p.Gly222Trp)
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.672C>T (p.Thr224=)
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) rs2038232008
NM_152443.3(RDH12):c.681A>G (p.Ala227=) rs1487124240
NM_152443.3(RDH12):c.687C>T (p.His229=)
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.691G>C (p.Gly231Arg) rs2038232614
NM_152443.3(RDH12):c.693C>T (p.Gly231=) rs750465199
NM_152443.3(RDH12):c.696C>G (p.Val232=)
NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) rs2038232911
NM_152443.3(RDH12):c.699C>T (p.Val233=)
NM_152443.3(RDH12):c.700C>T (p.Arg234Cys)
NM_152443.3(RDH12):c.709C>T (p.Leu237=) rs1377743038
NM_152443.3(RDH12):c.711G>A (p.Leu237=)
NM_152443.3(RDH12):c.711G>C (p.Leu237=) rs766547426
NM_152443.3(RDH12):c.712G>C (p.Val238Leu) rs1316624378
NM_152443.3(RDH12):c.714C>G (p.Val238=)
NM_152443.3(RDH12):c.714C>T (p.Val238=) rs2038233580
NM_152443.3(RDH12):c.715C>A (p.Arg239=)
NM_152443.3(RDH12):c.715C>T (p.Arg239Trp) rs751589863
NM_152443.3(RDH12):c.715dup (p.Arg239fs) rs760813820
NM_152443.3(RDH12):c.716G>A (p.Arg239Gln) rs1239043055
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.720C>T (p.His240=)
NM_152443.3(RDH12):c.723del (p.Ser242fs)
NM_152443.3(RDH12):c.733T>G (p.Cys245Gly)
NM_152443.3(RDH12):c.735C>T (p.Cys245=) rs2140150741
NM_152443.3(RDH12):c.738G>A (p.Leu246=) rs752438534
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe) rs1185491186
NM_152443.3(RDH12):c.741C>A (p.Leu247=) rs372991397
NM_152443.3(RDH12):c.745C>A (p.Arg249=) rs1452061026
NM_152443.3(RDH12):c.750C>T (p.Leu250=)
NM_152443.3(RDH12):c.751T>C (p.Phe251Leu)
NM_152443.3(RDH12):c.755C>T (p.Ser252Phe)
NM_152443.3(RDH12):c.756C>G (p.Ser252=)
NM_152443.3(RDH12):c.756C>T (p.Ser252=) rs1405466014
NM_152443.3(RDH12):c.757C>A (p.Pro253Thr) rs943754830
NM_152443.3(RDH12):c.758C>A (p.Pro253His) rs770465995
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg) rs770465995
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu) rs770465995
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.759dup (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.762T>C (p.Phe254=) rs1468221103
NM_152443.3(RDH12):c.764T>G (p.Val255Gly)
NM_152443.3(RDH12):c.766A>C (p.Lys256Gln)
NM_152443.3(RDH12):c.771G>A (p.Thr257=) rs1035808739
NM_152443.3(RDH12):c.778del (p.Glu260fs) rs527236099
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.780G>A (p.Glu260=) rs140821098
NM_152443.3(RDH12):c.780G>T (p.Glu260Asp)
NM_152443.3(RDH12):c.782G>C (p.Gly261Ala) rs2140150922
NM_152443.3(RDH12):c.782G>T (p.Gly261Val)
NM_152443.3(RDH12):c.784del (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.784dup (p.Ala262fs) rs1594867551
NM_152443.3(RDH12):c.786G>A (p.Ala262=)
NM_152443.3(RDH12):c.787_788dup (p.Gln263fs)
NM_152443.3(RDH12):c.789G>A (p.Gln263=) rs2140150932
NM_152443.3(RDH12):c.791C>T (p.Thr264Ile)
NM_152443.3(RDH12):c.796del (p.Leu266fs)
NM_152443.3(RDH12):c.798G>A (p.Leu266=) rs192095744
NM_152443.3(RDH12):c.800A>C (p.His267Pro) rs1424264350
NM_152443.3(RDH12):c.804del (p.Cys268fs)
NM_152443.3(RDH12):c.805G>C (p.Ala269Pro) rs767385752
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.807C>G (p.Ala269=) rs2140151030
NM_152443.3(RDH12):c.807_813del (p.Leu270fs)
NM_152443.3(RDH12):c.812_813del (p.Ala271fs) rs2140151036
NM_152443.3(RDH12):c.823G>T (p.Glu275Ter) rs755909719
NM_152443.3(RDH12):c.825G>C (p.Glu275Asp)
NM_152443.3(RDH12):c.828C>G (p.Pro276=)
NM_152443.3(RDH12):c.829_830del (p.Leu277fs)
NM_152443.3(RDH12):c.840G>A (p.Lys280=)
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)
NM_152443.3(RDH12):c.847A>G (p.Ser283Gly)
NM_152443.3(RDH12):c.848+14A>G rs535122314
NM_152443.3(RDH12):c.848+15T>C
NM_152443.3(RDH12):c.848+17C>A
NM_152443.3(RDH12):c.848+17C>T
NM_152443.3(RDH12):c.848+18G>T
NM_152443.3(RDH12):c.848+19G>T
NM_152443.3(RDH12):c.848+19del
NM_152443.3(RDH12):c.848+1G>C
NM_152443.3(RDH12):c.848+1GT[2]
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.848+3G>A rs2038237483
NM_152443.3(RDH12):c.848+7G>A
NM_152443.3(RDH12):c.848+7G>T
NM_152443.3(RDH12):c.848+9A>C
NM_152443.3(RDH12):c.849-10T>C
NM_152443.3(RDH12):c.849-11C>G
NM_152443.3(RDH12):c.849-11C>T
NM_152443.3(RDH12):c.849-13del
NM_152443.3(RDH12):c.849-16T>A
NM_152443.3(RDH12):c.849-6C>G rs1203847598
NM_152443.3(RDH12):c.849-6C>T
NM_152443.3(RDH12):c.849-7C>T rs2140162436
NM_152443.3(RDH12):c.849-8C>T
NM_152443.3(RDH12):c.854G>A (p.Cys285Tyr) rs973306929
NM_152443.3(RDH12):c.863C>T (p.Thr288Ile)
NM_152443.3(RDH12):c.864C>G (p.Thr288=)
NM_152443.3(RDH12):c.866G>A (p.Trp289Ter) rs2140162488
NM_152443.3(RDH12):c.867_884del (p.Trp289_Arg295delinsTer)
NM_152443.3(RDH12):c.869dup (p.Ser291fs) rs2038316193
NM_152443.3(RDH12):c.870G>A (p.Val290=) rs2140162517
NM_152443.3(RDH12):c.874C>T (p.Pro292Ser)
NM_152443.3(RDH12):c.878G>T (p.Arg293Met) rs746131696
NM_152443.3(RDH12):c.879G>A (p.Arg293=) rs1566852756
NM_152443.3(RDH12):c.883C>A (p.Arg295=) rs200387832
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152443.3(RDH12):c.891_893dup (p.Asn297dup) rs2140162568
NM_152443.3(RDH12):c.904C>T (p.Arg302Cys)
NM_152443.3(RDH12):c.905G>A (p.Arg302His)
NM_152443.3(RDH12):c.906C>T (p.Arg302=)
NM_152443.3(RDH12):c.907C>T (p.Leu303=) rs2140162607
NM_152443.3(RDH12):c.909A>G (p.Leu303=)
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter) rs2038317129
NM_152443.3(RDH12):c.915T>C (p.Asn305=) rs2140162639
NM_152443.3(RDH12):c.918C>T (p.Val306=)
NM_152443.3(RDH12):c.929T>G (p.Leu310Arg) rs991322422
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213
NM_152443.3(RDH12):c.932T>C (p.Leu311Pro) rs769546135
NM_152443.3(RDH12):c.933A>G (p.Leu311=) rs2140162696
NM_152443.3(RDH12):c.938T>C (p.Ile313Thr) rs1197223861
NM_152443.3(RDH12):c.942G>C (p.Arg314=)
NM_152443.3(RDH12):c.946del (p.Glu316fs)

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.