ClinVar Miner

List of variants in gene CLN6 reported as benign by Invitae

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069 0.00198
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
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.53C>T (p.Ala18Val) rs547125345 0.00120
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088 0.00042
NM_017882.3(CLN6):c.84-18C>T rs201554701 0.00022
NM_017882.3(CLN6):c.487-8T>C rs202046680 0.00019
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_017882.3(CLN6):c.297+19del rs61224699
NM_017882.3(CLN6):c.298-3del rs1567095944
NM_017882.3(CLN6):c.487-12T>A rs571940397
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) rs527373013
NM_017882.3(CLN6):c.83+14dup rs756808642

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