ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis

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Total variants: 49
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HGVS dbSNP
NC_000013.11:g.(?_76995053)_(76995238_?)dup
NC_000015.9:g.(?_68500458)_(68504221_?)del
NM_000086.2(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_000086.2(CLN3):c.1056G>T (p.Gln352His) rs386833699
NM_000086.2(CLN3):c.265C>T (p.Arg89Ter) rs386833713
NM_000086.2(CLN3):c.46+1G>A rs1057516343
NM_000086.2(CLN3):c.461-1G>T rs386833722
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.790+1del rs1555468374
NM_000086.2(CLN3):c.988G>T (p.Val330Phe) rs386833744
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000391.4(TPP1):c.1145+1G>A rs113019349
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) rs1060502179
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.381-2A>G rs1554902052
NM_001042432.2(CLN3):c.1057-2A>G
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
NM_001042432.2(CLN3):c.125+1G>C
NM_001042432.2(CLN3):c.373del (p.Ser125fs) rs1596563048
NM_001042432.2(CLN3):c.374+1G>A
NM_001042432.2(CLN3):c.375-2A>T
NM_001042432.2(CLN3):c.534-2A>G
NM_001042432.2(CLN3):c.790+2T>C
NM_001042432.2(CLN3):c.962+2T>G
NM_001042432.2(CLN3):c.963-2A>G
NM_001909.5(CTSD):c.827+2T>C
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.173+1G>T
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_017882.3(CLN6):c.199-2A>G
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_017882.3(CLN6):c.486+1G>C
NM_017882.3(CLN6):c.543-2A>G
NM_017882.3(CLN6):c.665+1G>A rs796052356
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) rs1555438255
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_018941.3(CLN8):c.1A>G (p.Met1Val) rs143730802
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.473A>G (p.Tyr158Cys) rs386834130
NM_018941.3(CLN8):c.703del (p.Val236fs) rs761621368
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) rs765097897
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser) rs386834130
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411

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