ClinVar Miner

List of variants in gene CLN5 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 20
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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.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006493.4(CLN5):c.705G>A (p.Val235=) rs116531784 0.00163
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438 0.00034
NM_006493.4(CLN5):c.342A>G (p.Lys114=) rs770149235 0.00001
NM_006493.4(CLN5):c.761C>T (p.Thr254Ile) rs398124228 0.00001
NM_006493.2(CLN5):c.77C>A (p.Ala26Glu) rs794726928
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp) rs762873839
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) rs794727507
NM_006493.4(CLN5):c.765C>G (p.Asn255Lys) rs1566221492
NM_006493.4(CLN5):c.775A>T (p.Ile259Leu) rs794727641
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) rs386833964

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