ClinVar Miner

List of variants in gene CLN8 reported as benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018941.4(CLN8):c.544-227A>G rs3935479 0.07779
NM_018941.4(CLN8):c.544-124T>C rs12546965 0.07202
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_018941.4(CLN8):c.318C>T (p.His106=) rs184988046 0.00018
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018941.4(CLN8):c.639G>T (p.Trp213Cys) rs113304303
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916

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