ClinVar Miner

List of variants in gene CLN6 reported as benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_017882.3(CLN6):c.198+104T>C
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
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.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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