ClinVar Miner

List of variants in gene GNPTAB reported as pathogenic by Invitae

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Total variants: 9
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NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026
NM_024312.5(GNPTAB):c.153_156TTTG[1] (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895

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