ClinVar Miner

List of variants in gene CLN5 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_006493.2(CLN5):c.101C>G (p.Pro34Arg) rs937545860
NM_006493.2(CLN5):c.127G>A (p.Gly43Arg) rs529998879
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839
NM_006493.2(CLN5):c.25C>T (p.Pro9Ser)
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.35G>T (p.Gly12Val) rs1465531119
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248
NM_006493.2(CLN5):c.62C>T (p.Pro21Leu) rs988786332
NM_006493.2(CLN5):c.65G>T (p.Arg22Leu) rs576642281
NM_006493.2(CLN5):c.74T>C (p.Leu25Pro) rs1182554801
NM_006493.2(CLN5):c.7C>T (p.Arg3Trp) rs759859373
NM_006493.2:c.17G>T
NM_006493.2:c.64C>A
NM_006493.2:c.70G>T
NM_006493.4(CLN5):c.-14C>T rs768714949
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu) rs1285996011
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys) rs775102823
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) rs541501705
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) rs563306322
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.47_52GCGCGG[3] (p.16_17GA[3]) rs1409904698
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715

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