List of variants reported as pathogenic for Leber congenital amaurosis 13 by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 84

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	rs61740289	0.00029
NM_152443.3(RDH12):c.701G>A (p.Arg234His)	rs750636662	0.00010
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	rs104894471	0.00007
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)	rs527800020	0.00005
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	rs28940315	0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	rs761231974	0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	rs28940314	0.00003
NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	rs1349849938	0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	rs140257538	0.00003
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	rs759408031	0.00002
NM_152443.3(RDH12):c.133A>G (p.Thr45Ala)	rs1225487694	0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)	rs778571042	0.00001
NM_152443.3(RDH12):c.210dup (p.Arg71fs)	rs797044761	0.00001
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)	rs368489658	0.00001
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)	rs752242512	0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	rs202126574	0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)	rs116649873	0.00001
NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	rs747257567	0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp)	rs104894475	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	rs971610277	0.00001
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)	rs753074829	0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	rs745871149	0.00001
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	rs28940313	0.00001
NM_152443.3(RDH12):c.106C>T (p.Gln36Ter)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462
NM_152443.3(RDH12):c.189del (p.Ala64fs)
NM_152443.3(RDH12):c.216_219del (p.Asp72_Val73insTer)
NM_152443.3(RDH12):c.226G>A (p.Gly76Arg)	rs368489658
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	rs368489658
NM_152443.3(RDH12):c.229G>T (p.Glu77Ter)
NM_152443.3(RDH12):c.272dup (p.Val92fs)
NM_152443.3(RDH12):c.314_318del (p.Ile105fs)
NM_152443.3(RDH12):c.343+1G>A
NM_152443.3(RDH12):c.344-43_421del
NM_152443.3(RDH12):c.377C>A (p.Ala126Glu)	rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	rs104894474
NM_152443.3(RDH12):c.393T>A (p.Cys131Ter)	rs755621140
NM_152443.3(RDH12):c.43del (p.Leu15fs)	rs1167979935
NM_152443.3(RDH12):c.448+1G>A	rs781331005
NM_152443.3(RDH12):c.448+1G>C	rs781331005
NM_152443.3(RDH12):c.488del (p.Lys163fs)	rs2038193754
NM_152443.3(RDH12):c.496del (p.Ala166fs)	rs2140145266
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly)	rs761167763
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	rs761167763
NM_152443.3(RDH12):c.524C>A (p.Ser175Ter)	rs116733939
NM_152443.3(RDH12):c.52del (p.Met17_Val18insTer)	rs2140138107
NM_152443.3(RDH12):c.535C>G (p.His179Asp)	rs2038195054
NM_152443.3(RDH12):c.546del (p.Ile183fs)
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter)	rs104894470
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)	rs2140145502
NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)	rs2038196341
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	rs753959716
NM_152443.3(RDH12):c.617C>T (p.Ala206Val)
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	rs794729650
NM_152443.3(RDH12):c.68+1G>A	rs2140138146
NM_152443.3(RDH12):c.680_683del (p.Ala227fs)	rs2038232008
NM_152443.3(RDH12):c.697_698dup (p.Arg234fs)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu)	rs2038232911
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>T (p.Arg239Leu)	rs1239043055
NM_152443.3(RDH12):c.723del (p.Ser242fs)
NM_152443.3(RDH12):c.759del (p.Phe254fs)	rs1594867516
NM_152443.3(RDH12):c.778del (p.Glu260fs)	rs527236099
NM_152443.3(RDH12):c.779dup (p.Ala262fs)
NM_152443.3(RDH12):c.784del (p.Ala262fs)	rs1594867551
NM_152443.3(RDH12):c.784dup (p.Ala262fs)	rs1594867551
NM_152443.3(RDH12):c.796del (p.Leu266fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	rs386834261
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.829_830del (p.Leu277fs)
NM_152443.3(RDH12):c.843C>G (p.Tyr281Ter)
NM_152443.3(RDH12):c.848+1G>C
NM_152443.3(RDH12):c.848+2T>C	rs878853338
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.883C>T (p.Arg295Ter)	rs200387832
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)	rs878853339
NM_152443.3(RDH12):c.98del (p.Thr33fs)

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