ClinVar Miner

List of variants reported as likely benign for neuronal ceroid lipofuscinosis by Genome-Nilou Lab

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006493.4(CLN5):c.120C>T (p.Gly40=) rs370320230 0.00008
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042432.2(CLN3):c.447G>T (p.Gly149=) rs779918787 0.00002
NM_001042432.2(CLN3):c.309G>A (p.Ala103=) rs774996613 0.00001
NM_006493.4(CLN5):c.342A>G (p.Lys114=) rs770149235 0.00001
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_006493.4(CLN5):c.566-7A>G rs772501269

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