ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis by Mendelics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys) rs765097897 0.00002
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) rs1554902216
NM_000391.4(TPP1):c.380+5G>A rs1564855725
NM_000391.4(TPP1):c.687+1G>C rs1465284719
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter) rs1057516677
NM_001042432.2(CLN3):c.373del (p.Ser125fs) rs1596563048
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.371del (p.Ser124fs) rs794729218
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017882.3(CLN6):c.837del (p.Trp279fs) rs1595816465
NM_018941.4(CLN8):c.-125_-124+19dup rs1064793088
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser) rs386834130

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