ClinVar Miner

List of variants in gene CLN6 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.199-252A>C rs6494721 0.99389
NM_017882.3(CLN6):c.198+104T>C rs8025947 0.57324
NM_017882.3(CLN6):c.83+188T>C rs55954678 0.55262
NM_017882.3(CLN6):c.665+265G>A rs11632516 0.46738
NM_017882.3(CLN6):c.*38A>G rs757788122 0.18759
NM_017882.3(CLN6):c.*42T>G rs754655363 0.14249
NC_000015.10:g.68229772A>G rs541466473 0.12046
NM_017882.3(CLN6):c.298-196A>G rs61281446 0.07222
NM_017882.3(CLN6):c.298-248G>A rs59951468 0.06820
NM_017882.3(CLN6):c.486+51C>T rs8024979 0.06809
NM_017882.3(CLN6):c.83+35C>G rs150630197 0.05957
NM_017882.3(CLN6):c.198+181A>G rs59385667 0.03464
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01298
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00608
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00182
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.339G>A (p.Thr113=) rs146135801 0.00133
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00039
NM_017882.3(CLN6):c.42C>A (p.Gly14=) rs373776911 0.00036
NM_017882.3(CLN6):c.-38C>T rs756496671 0.00032
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00025
NM_017882.3(CLN6):c.84-18C>T rs201554701 0.00022
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_017882.3(CLN6):c.63C>T (p.Gly21=) rs796052348 0.00001
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349 0.00001
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC rs55672378
NM_017882.3(CLN6):c.*141GT[11] rs3837692
NM_017882.3(CLN6):c.*141GT[13] rs3837692
NM_017882.3(CLN6):c.*141GT[8] rs3837692
NM_017882.3(CLN6):c.135C>T (p.Leu45=) rs374577694
NM_017882.3(CLN6):c.195C>T (p.Ala65=) rs1472031434
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.83+14dup rs756808642

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