ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 8
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NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024

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