ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 7

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Total variants: 30
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HGVS dbSNP
NM_001371596.2(MFSD8):c.*1280T>A
NM_001371596.2(MFSD8):c.*675T>C
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=) rs772735057
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=) rs376258320
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=) rs755236045
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=) rs1578795529
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=) rs143654391
NM_001371596.2(MFSD8):c.439+9G>T rs1339979382
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=) rs761767969
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=) rs142063476
NM_001371596.2(MFSD8):c.755-6C>T rs752118814
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=) rs776272077
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=) rs747352043
NM_152778.3(MFSD8):c.*258A>C rs151190415
NM_152778.3(MFSD8):c.*2689T>C rs189321020
NM_152778.3(MFSD8):c.*492A>T rs534206104
NM_152778.3(MFSD8):c.102C>T (p.Ser34=) rs139212190
NM_152778.3(MFSD8):c.1041A>G (p.Val347=) rs148291156
NM_152778.3(MFSD8):c.1311C>G (p.Ser437=) rs145453022
NM_152778.3(MFSD8):c.1320A>G (p.Leu440=) rs148864710
NM_152778.3(MFSD8):c.206C>T (p.Pro69Leu) rs147750747
NM_152778.3(MFSD8):c.270T>A (p.Ala90=) rs754809138
NM_152778.3(MFSD8):c.342C>T (p.Ser114=) rs201905099
NM_152778.3(MFSD8):c.435A>C (p.Gly145=) rs781299975
NM_152778.3(MFSD8):c.590G>A (p.Gly197Asp) rs28544073
NM_152778.3(MFSD8):c.63-4del rs755011754
NM_152778.3(MFSD8):c.78A>G (p.Leu26=) rs770986122
NM_152778.3(MFSD8):c.813C>T (p.Ala271=) rs768499490
NM_152778.3(MFSD8):c.975A>G (p.Leu325=) rs570989221
NM_152778.3(MFSD8):c.978A>G (p.Gly326=) rs138219028

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