ClinVar Miner

List of variants in gene RDH12, ZFYVE26 studied for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152443.3(RDH12):c.688C>G (p.Pro230Ala) rs104894476
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.771G>A (p.Thr257=)
NM_152443.3(RDH12):c.784dup (p.Ala262fs)
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)

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