ClinVar Miner

List of variants in gene CLN6 studied for Seizures

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Total variants: 15
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HGVS dbSNP
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) rs104894483
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.297+4C>T rs1030759897
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) rs1227254537
NM_017882.3(CLN6):c.486+1G>A rs756522171
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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