ClinVar Miner

List of variants in gene CLN5 studied for Neuronal ceroid lipofuscinosis 5

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Total variants: 33
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HGVS dbSNP
NC_000013.11:g.76992002del rs765323914
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_006493.2(CLN5):c.35G>T (p.Gly12Val) rs1465531119
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.4C>T (p.Arg2Cys) rs77416795
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.2(CLN5):c.72A>G (p.Gly24=) rs7987664
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.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.131_132TC[1] (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro)
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.173+8C>T rs9565308
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
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.73_74delinsG (p.Ser25fs) rs1057516814
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) rs764790770
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) rs104894385
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) rs200348035
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471

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