ClinVar Miner

List of variants in gene CLN6 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) rs201095412
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.36G>A (p.Ala12=) rs1048000119
NM_017882.3(CLN6):c.58C>T (p.Leu20=) rs886042533
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) rs886042709
NM_017882.3(CLN6):c.721A>G (p.Met241Val) rs753994750
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017882.3(CLN6):c.798C>T (p.Phe266=) rs140319056
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698

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