ClinVar Miner

List of variants studied for Leber congenital amaurosis 9 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_022787.4(NMNAT1):c.440-16G>T rs181513024 0.00353
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) rs61740429 0.00103
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828 0.00101
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_022787.4(NMNAT1):c.633C>T (p.His211=) rs780520411 0.00043
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_022787.4(NMNAT1):c.116-11T>C rs750115467 0.00017
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) rs202057799 0.00013
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) rs371526758 0.00012
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) rs145908106 0.00011
NM_022787.4(NMNAT1):c.115+15C>T rs745824270 0.00006
NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) rs377325572 0.00006
NM_022787.4(NMNAT1):c.651C>T (p.Ile217=) rs773171837 0.00006
NM_022787.4(NMNAT1):c.747A>G (p.Glu249=) rs771642123 0.00006
NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr) rs765892459 0.00005
NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp) rs201020918 0.00004
NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile) rs369355895 0.00004
NM_022787.4(NMNAT1):c.531C>T (p.Ile177=) rs747492424 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_022787.4(NMNAT1):c.78G>A (p.Arg26=) rs199748436 0.00004
NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu) rs762655133 0.00003
NM_022787.4(NMNAT1):c.12C>T (p.Ser4=) rs148490817 0.00002
NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys) rs747825699 0.00002
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) rs763325435 0.00002
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) rs372066126 0.00002
NM_022787.4(NMNAT1):c.462G>A (p.Leu154=) rs774189417 0.00002
NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg) rs960609793 0.00002
NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val) rs1476946920 0.00002
NM_022787.4(NMNAT1):c.603T>C (p.Asp201=) rs368456221 0.00002
NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln) rs1026765174 0.00002
NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr) rs763166285 0.00002
NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile) rs766979956 0.00002
NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp) rs1408398828 0.00001
NM_022787.4(NMNAT1):c.108T>C (p.Asn36=) rs754428867 0.00001
NM_022787.4(NMNAT1):c.115+8C>G rs777466989 0.00001
NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg) rs1195640784 0.00001
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn) rs199561165 0.00001
NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe) rs756903689 0.00001
NM_022787.4(NMNAT1):c.299+12G>T rs1391227009 0.00001
NM_022787.4(NMNAT1):c.300-10T>G rs778701965 0.00001
NM_022787.4(NMNAT1):c.370G>A (p.Gly124Arg) rs774813024 0.00001
NM_022787.4(NMNAT1):c.372A>G (p.Gly124=) rs762271207 0.00001
NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) rs200333003 0.00001
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044 0.00001
NM_022787.4(NMNAT1):c.473A>T (p.Asp158Val) rs1471406235 0.00001
NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe) rs1049428996 0.00001
NM_022787.4(NMNAT1):c.512G>A (p.Ser171Asn) rs769493618 0.00001
NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp) rs1163983606 0.00001
NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val) rs962546443 0.00001
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) rs757724544 0.00001
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) rs748902766 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) rs1337014971 0.00001
NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val) rs1641968442 0.00001
NM_022787.4(NMNAT1):c.556G>A (p.Val186Ile) rs1557475933 0.00001
NM_022787.4(NMNAT1):c.624C>T (p.Ser208=) rs1345670182 0.00001
NM_022787.4(NMNAT1):c.66C>T (p.Asn22=) rs767779616 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) rs375110174 0.00001
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847 0.00001
NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr) rs1001997442 0.00001
NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr) rs1033480343 0.00001
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=) rs781081892 0.00001
NC_000001.10:g.(?_10003560)_(10035853_?)dup
NC_000001.10:g.(?_10003560)_(10042759_?)dup
NC_000001.10:g.(?_10027411)_(10042759_?)del
NC_000001.10:g.(?_10027411)_(10045246_?)del
NC_000001.10:g.(?_10032132)_(10032266_?)del
NC_000001.10:g.(?_10032132)_(10035853_?)del
NC_000001.10:g.(?_10032132)_(10041248_?)dup
NC_000001.10:g.(?_10035630)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10041248_?)del
NC_000001.10:g.(?_10041069)_(10042759_?)del
NC_000001.11:g.(?_9972074)_(9981247_?)dup
NC_000001.11:g.(?_9981011)_(9982721_?)del
NM_022787.4(NMNAT1):c.115+14C>T
NM_022787.4(NMNAT1):c.115+16A>G
NM_022787.4(NMNAT1):c.115+1G>A rs779434083
NM_022787.4(NMNAT1):c.115+1G>C
NM_022787.4(NMNAT1):c.116-2A>G rs1204470176
NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)
NM_022787.4(NMNAT1):c.126A>G (p.Thr42=) rs2101701310
NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)
NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn) rs1641789249
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter)
NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg)
NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys)
NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys) rs1238255494
NM_022787.4(NMNAT1):c.216T>C (p.Leu72=) rs2101701562
NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys) rs1641702008
NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter)
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) rs2101701634
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs)
NM_022787.4(NMNAT1):c.299+13T>G rs745983431
NM_022787.4(NMNAT1):c.299+19A>G
NM_022787.4(NMNAT1):c.299+19_299+21dup rs2101701817
NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys) rs776968950
NM_022787.4(NMNAT1):c.300-12G>C
NM_022787.4(NMNAT1):c.300-4A>G rs748003715
NM_022787.4(NMNAT1):c.300-5T>C rs2101713162
NM_022787.4(NMNAT1):c.316T>C (p.Leu106=) rs1402879404
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) rs1413885352
NM_022787.4(NMNAT1):c.366G>A (p.Arg122=) rs1305151671
NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg)
NM_022787.4(NMNAT1):c.387G>T (p.Trp129Cys) rs547859415
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) rs1641702737
NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly)
NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) rs1033800829
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) rs2101713372
NM_022787.4(NMNAT1):c.435A>G (p.Thr145=) rs188112051
NM_022787.4(NMNAT1):c.439+12T>C
NM_022787.4(NMNAT1):c.439+7A>G rs992404414
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.453C>G (p.Val151=)
NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg)
NM_022787.4(NMNAT1):c.468G>A (p.Gly156=)
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) rs1641966566
NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) rs1641966893
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) rs1405020783
NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) rs2101715993
NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=)
NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr) rs773858787
NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln) rs767485367
NM_022787.4(NMNAT1):c.57C>T (p.Pro19=)
NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)
NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)
NM_022787.4(NMNAT1):c.606G>A (p.Val202=)
NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) rs1641969880
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter)
NM_022787.4(NMNAT1):c.654T>C (p.Ala218=) rs770733635
NM_022787.4(NMNAT1):c.654T>G (p.Ala218=)
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) rs763438353
NM_022787.4(NMNAT1):c.691A>C (p.Arg231=)
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser)
NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr)
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_022787.4(NMNAT1):c.75C>A (p.Leu25=) rs929001558
NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) rs777097208
NM_022787.4(NMNAT1):c.768T>C (p.Ser256=)
NM_022787.4(NMNAT1):c.792G>A (p.Gly264=)
NM_022787.4(NMNAT1):c.793dup (p.Val265fs)
NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val)
NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu)
NM_022787.4(NMNAT1):c.88C>T (p.Leu30=) rs2101693174
NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser)
NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) rs2101693191

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