ClinVar Miner

List of variants reported as uncertain significance for neuronal ceroid lipofuscinosis by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_017882.3(CLN6):c.297+113G>C rs553192210 0.00001
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_002087.4(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943

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