ClinVar Miner

List of variants in gene CLN6 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
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.923G>C (p.Ser308Thr) rs143578698 0.00169
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.298-15C>T rs368661456 0.00009
NM_017882.3(CLN6):c.564C>A (p.Ile188=) rs371326037 0.00004
NM_017882.3(CLN6):c.534C>T (p.His178=) rs763901402 0.00003
NM_017882.3(CLN6):c.*141GT[7]
NM_017882.3(CLN6):c.*151G>A
NM_017882.3(CLN6):c.873G>A (p.Pro291=) rs567275786

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