ClinVar Miner

List of variants in gene GNPTAB reported by GeneDx

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Total variants: 6
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HGVS dbSNP
NM_024312.4(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.4(GNPTAB):c.2119G>A (p.Ala707Thr) rs376620571
NM_024312.4(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.4(GNPTAB):c.2341G>A (p.Val781Met) rs183435240
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897

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