ClinVar Miner

List of variants in gene NMNAT1 studied for Leber congenital amaurosis 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) rs768528387 0.00001
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) rs1553128102 0.00001
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) rs775978677 0.00001
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) rs1641970512
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) rs747653875
NM_022787.4(NMNAT1):c.[196C>T];[709C>T]
NM_022787.4(NMNAT1):c.[275G>A];[709C>T]

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