ClinVar Miner

List of variants in gene CLN6 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 8
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HGVS dbSNP
NC_000015.9:g.68504037_68504039delGAT rs121908080
NM_017882.2(CLN6):c.316dupC (p.Arg106Profs) rs397515352
NM_017882.3(CLN6):c.199-5C>T rs371705916
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017882.3(CLN6):c.516T>C (p.Tyr172=)
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323

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