ClinVar Miner

List of variants in gene combination NANS, TRIM14 reported by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018946.4(NANS):c.562T>C (p.Tyr188His) rs878852981 0.00004
NM_018946.4(NANS):c.448+1G>A rs779218846 0.00001
NM_018946.4(NANS):c.709C>T (p.Arg237Cys) rs878852982 0.00001
NM_018946.4(NANS):c.389dup (p.Lys131fs) rs878853267
NM_018946.4(NANS):c.398G>T (p.Gly133Val) rs878852980
NM_018946.4(NANS):c.449-10_449-5delinsATGG rs879255602
NM_018946.4(NANS):c.452G>A (p.Arg151His) rs140402727
NM_018946.4(NANS):c.979_981dup (p.Ile327dup) rs878853268

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