ClinVar Miner

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

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_018946.4(NANS):c.870+53A>G rs4237190 0.60836
NM_018946.4(NANS):c.153T>C (p.Ala51=) rs13049 0.60644
NM_018946.4(NANS):c.102C>T (p.Asp34=) rs3739670 0.32810
NM_018946.4(NANS):c.133-124G>A rs7846880 0.32510
NC_000009.12:g.98056438C>T rs6478539 0.31469
NM_018946.4(NANS):c.871-121A>G rs2281732 0.30718
NM_018946.4(NANS):c.348+81C>A rs7020081 0.29875
NM_018946.4(NANS):c.133-224T>A rs7038592 0.29828
NM_018946.4(NANS):c.870+296C>A rs16912622 0.29514
NM_018946.4(NANS):c.204G>C (p.Glu68Asp) rs1058446 0.22045
NM_018946.4(NANS):c.886G>C (p.Val296Leu) rs147561143 0.00011
NM_018946.4(NANS):c.772G>T (p.Glu258Ter) rs200709126 0.00001
NM_018946.4(NANS):c.200T>C (p.Leu67Ser) rs375797722
NM_018946.4(NANS):c.70G>A (p.Glu24Lys)

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