ClinVar Miner

List of variants in gene CLN5 reported as uncertain significance for Neuronal ceroid lipofuscinosis 5

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Total variants: 16
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HGVS dbSNP
NM_006493.2(CLN5):c.-8G>A rs772316134
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.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.4(CLN5):c.-4C>T rs587780896
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.-8G>A
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)
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.5C>T (p.Ala2Val) rs146993892
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787

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