ClinVar Miner

List of variants in gene CLN6 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.297+158C>T rs11638475 0.02178
NC_000015.10:g.68229762A>G rs375902554 0.01863
NM_017882.3(CLN6):c.298-168C>T rs56883694 0.01346
NM_017882.3(CLN6):c.542+165C>T rs17317039 0.01189
NM_017882.3(CLN6):c.543-303G>A rs148243823 0.01154
NM_017882.3(CLN6):c.542+212C>T rs111504155 0.00812
NM_017882.3(CLN6):c.*30T>G rs758756489 0.00700
NM_017882.3(CLN6):c.84-81C>T rs117298614 0.00698
NM_017882.3(CLN6):c.199-84C>T rs7182333 0.00619
NM_017882.3(CLN6):c.487-39C>T rs116956347 0.00549
NM_017882.3(CLN6):c.*393G>A rs114833125 0.00546
NM_017882.3(CLN6):c.83+218G>T rs541105748 0.00509
NM_017882.3(CLN6):c.199-70G>A rs114850355 0.00479
NM_017882.3(CLN6):c.487-140G>A rs74020079 0.00436
NM_017882.3(CLN6):c.542+33G>A rs548821903 0.00342
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_017882.3(CLN6):c.-23G>A rs536088577 0.00028
NM_017882.3(CLN6):c.741C>T (p.His247=) rs140653271 0.00020
NM_017882.3(CLN6):c.-37C>T rs1001908044 0.00015
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_017882.3(CLN6):c.-27C>A rs1024665053 0.00010
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.213C>T (p.Leu71=) rs146980624 0.00006
NM_017882.3(CLN6):c.666-45C>T rs201306069 0.00006
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) rs374613712 0.00006
NM_017882.3(CLN6):c.678C>T (p.Thr226=) rs374744816 0.00005
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) rs533231370 0.00004
NM_017882.3(CLN6):c.487-13G>A rs747926816 0.00004
NM_017882.3(CLN6):c.487-20C>T rs772189210 0.00004
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) rs774291260 0.00003
NM_017882.3(CLN6):c.582C>T (p.Ser194=) rs769007090 0.00002
NM_017882.3(CLN6):c.180T>C (p.Phe60=) rs1183583039 0.00001
NM_017882.3(CLN6):c.240T>C (p.Ser80=) rs1395492951 0.00001
NM_017882.3(CLN6):c.810C>G (p.Leu270=) rs183399390 0.00001
NM_017882.3(CLN6):c.90C>T (p.Gly30=) rs1254460869 0.00001
NM_017882.3(CLN6):c.918C>T (p.His306=) rs1347398610 0.00001
NM_017882.3(CLN6):c.*141GT[12] rs3837692
NM_017882.3(CLN6):c.*141GT[14] rs3837692
NM_017882.3(CLN6):c.*141GT[9] rs3837692
NM_017882.3(CLN6):c.-29G>T rs1057523327
NM_017882.3(CLN6):c.-34G>A rs971420018
NM_017882.3(CLN6):c.-5C>T rs796052347
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.213C>A (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.354C>T (p.Ile118=) rs1555438691
NM_017882.3(CLN6):c.486+8C>A rs149692285
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.542+8A>G rs1555438612
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.666-20C>T rs754129486
NM_017882.3(CLN6):c.684C>A (p.Gly228=) rs1209133488
NM_017882.3(CLN6):c.774C>T (p.Asn258=) rs1555438231
NM_017882.3(CLN6):c.83+188_83+191del rs66812362
NM_017882.3(CLN6):c.83+225del rs577777835
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

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