ClinVar Miner

List of variants in gene GPHN, RDH12, ZFYVE26 studied for Leber congenital amaurosis 13

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Total variants: 184
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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.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.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.661_666delinsCCTCTTT (p.Thr221fs)
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.668_669insGTCCCAGGCACCTCTTTGTCCCAGG (p.Thr224fs)
NM_152443.3(RDH12):c.672C>T (p.Thr224=)
NM_152443.3(RDH12):c.680_683del (p.Ala227fs) rs2038232008
NM_152443.3(RDH12):c.680_684delinsT (p.Ala227fs)
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>A (p.Gly231Ser)
NM_152443.3(RDH12):c.691G>C (p.Gly231Arg) rs2038232614
NM_152443.3(RDH12):c.693C>A (p.Gly231=)
NM_152443.3(RDH12):c.693C>T (p.Gly231=) rs750465199
NM_152443.3(RDH12):c.693_694insACTGCGTCCGCTCTGAGCTGGC (p.Val232fs)
NM_152443.3(RDH12):c.696C>G (p.Val232=)
NM_152443.3(RDH12):c.697G>A (p.Val233Ile) rs140257538
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.704_710del (p.Ser235fs)
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.744_768del (p.Leu247_Trp248insTer)
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.775C>T (p.Arg259Trp)
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.792del (p.Ser265fs)
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.830T>C (p.Leu277Pro)
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.867G>A (p.Trp289Ter)
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.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.917T>G (p.Val306Gly)
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)

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