ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 9

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) rs145908106 0.00011
NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) rs377325572 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.634G>A (p.Val212Met) rs201994921 0.00004
NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu) rs762655133 0.00003
NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys) rs747825699 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.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.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.370G>A (p.Gly124Arg) rs774813024 0.00001
NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) rs200333003 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.542A>G (p.Tyr181Cys) rs748913297 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.680G>A (p.Arg227Gln) rs751644763 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.(?_10032132)_(10041248_?)dup
NC_000001.11:g.(?_9972074)_(9981247_?)dup
NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser)
NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp)
NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn) rs1641789249
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.22G>A (p.Glu8Lys) rs1641702008
NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg)
NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys) rs776968950
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>G (p.Ala13Gly)
NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) rs1033800829
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) rs387907292
NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg)
NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) rs1641966893
NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) rs2101715993
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.593A>G (p.Tyr198Cys) rs1641969530
NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn)
NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr)
NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) rs1641969880
NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr)
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) rs777097208
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.91G>T (p.Ala31Ser)
NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) rs2101693191

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