ClinVar Miner

List of variants in gene CLN6 reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) rs2093214695
NM_017882.3(CLN6):c.322del (p.Leu108fs)
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
NM_017882.3(CLN6):c.385dup (p.Val129fs)
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) rs2093205953
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) rs2093204342

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