ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 5 by Counsyl

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Total variants: 12
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HGVS dbSNP
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.2T>A (p.Met1Lys) rs201615354
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
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.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100

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