ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 9

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828 0.00101
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.115+15C>T rs745824270 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.531C>T (p.Ile177=) rs747492424 0.00004
NM_022787.4(NMNAT1):c.78G>A (p.Arg26=) rs199748436 0.00004
NM_022787.4(NMNAT1):c.12C>T (p.Ser4=) rs148490817 0.00002
NM_022787.4(NMNAT1):c.462G>A (p.Leu154=) rs774189417 0.00002
NM_022787.4(NMNAT1):c.603T>C (p.Asp201=) rs368456221 0.00002
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.299+12G>T rs1391227009 0.00001
NM_022787.4(NMNAT1):c.300-10T>G rs778701965 0.00001
NM_022787.4(NMNAT1):c.372A>G (p.Gly124=) rs762271207 0.00001
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044 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.115+14C>T
NM_022787.4(NMNAT1):c.115+16A>G
NM_022787.4(NMNAT1):c.126A>G (p.Thr42=) rs2101701310
NM_022787.4(NMNAT1):c.216T>C (p.Leu72=) rs2101701562
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.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.366G>A (p.Arg122=) rs1305151671
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.453C>G (p.Val151=)
NM_022787.4(NMNAT1):c.468G>A (p.Gly156=)
NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=)
NM_022787.4(NMNAT1):c.57C>T (p.Pro19=)
NM_022787.4(NMNAT1):c.606G>A (p.Val202=)
NM_022787.4(NMNAT1):c.654T>C (p.Ala218=) rs770733635
NM_022787.4(NMNAT1):c.654T>G (p.Ala218=)
NM_022787.4(NMNAT1):c.691A>C (p.Arg231=)
NM_022787.4(NMNAT1):c.75C>A (p.Leu25=) rs929001558
NM_022787.4(NMNAT1):c.768T>C (p.Ser256=)
NM_022787.4(NMNAT1):c.792G>A (p.Gly264=)
NM_022787.4(NMNAT1):c.88C>T (p.Leu30=) rs2101693174

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