ClinVar Miner

List of variants studied for Leber congenital amaurosis 9 by Invitae

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
NC_000001.11:g.(?_9972074)_(9981247_?)dup
NC_000001.11:g.(?_9981011)_(9982721_?)del
NC_000001.11:g.(?_9981031)_(9982701_?)dup
NM_022787.4(NMNAT1):c.115+3A>G rs181504239
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) rs61740429
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) rs202057799
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys)
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) rs778606847
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=)

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