ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement

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Total variants: 5
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HGVS dbSNP
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) rs755384900

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