ClinVar Miner

Variants in gene CLN8 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
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.-123-4T>C rs114189810 0.00505
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008

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