ClinVar Miner

List of variants in gene CLN5 reported as benign by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_006493.4(CLN5):c.-144C>T rs77416795 0.12832
NM_006493.4(CLN5):c.-76A>G rs7987664 0.07840
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805 0.03060
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910

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