ClinVar Miner

List of variants in gene CLN3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
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.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001042432.2(CLN3):c.174C>T (p.Ala58=) rs138433617 0.00014
NM_001042432.2(CLN3):c.615C>T (p.Ala205=) rs145631076 0.00005
NM_001042432.2(CLN3):c.975G>A (p.Leu325=) rs150174473 0.00005
NM_001042432.2(CLN3):c.-2C>G rs747169563 0.00004
GRCh37/hg19 16p11.2(chr16:28497668-28497971)x1
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.1250C>T (p.Thr417Ile) rs1596619244
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr) rs777625354
NM_001042432.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.460+1G>A rs1397086223
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.678-2A>G rs2046162412
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001042432.2(CLN3):c.954_962+18del rs386833741

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