ClinVar Miner

List of variants in gene KCNT1 reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.111-2A>T rs1382443844 0.00001
NM_020822.3(KCNT1):c.1402-8C>T rs1303785635 0.00001
NM_020822.3(KCNT1):c.2166_2170del (p.Pro724fs) rs1832854272
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met) rs1831785244

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