ClinVar Miner

List of variants in gene CLN6 studied for not specified

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Gene type:
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Total variants: 56
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HGVS dbSNP
NM_017882.3(CLN6):c.-23G>A rs536088577
NM_017882.3(CLN6):c.-27C>A rs1024665053
NM_017882.3(CLN6):c.-29G>T rs1057523327
NM_017882.3(CLN6):c.-34G>A rs971420018
NM_017882.3(CLN6):c.-37C>T rs1001908044
NM_017882.3(CLN6):c.-5C>T rs796052347
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039
NM_017882.3(CLN6):c.213C>A (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.298-15C>T rs368661456
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.487-13G>A rs747926816
NM_017882.3(CLN6):c.487-15C>T rs200775021
NM_017882.3(CLN6):c.487-20C>T rs772189210
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.542+8A>G rs1555438612
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.666-20C>T rs754129486
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.3(CLN6):c.83+14dup rs756808642
NM_017882.3(CLN6):c.84-18C>T rs201554701
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786
NM_017882.3(CLN6):c.876T>C (p.Gly292=) rs916275768
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala) rs753497587
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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