ClinVar Miner

List of variants in gene MFSD8 reported as uncertain significance for Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471 0.00019
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met) rs183450731 0.00003
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr) rs368614789 0.00003
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852 0.00002
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile) rs755384900 0.00001
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val) rs867524398

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