ClinVar Miner

List of variants in gene CLN6 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00141
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.120G>A (p.Thr40=) rs1034192926 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.423C>T (p.Gly141=) rs1484448524 0.00002
NM_017882.3(CLN6):c.99C>T (p.Ser33=) rs752449801 0.00002
NM_017882.3(CLN6):c.763C>T (p.Leu255=) rs1195840845 0.00001

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