ClinVar Miner

List of variants in gene CLN6 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 15
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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.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_017882.3(CLN6):c.477G>A (p.Pro159=) rs370811678 0.00013
NM_017882.3(CLN6):c.199-5C>T rs371705916 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.72C>T (p.Phe24=) rs767394326 0.00005
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) rs547002745 0.00001
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323 0.00001
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.3(CLN6):c.316dup (p.Arg106fs) rs397515352
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260

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