ClinVar Miner

List of variants in gene GNPTAB studied for Inborn genetic diseases

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Total variants: 2
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HGVS dbSNP
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs) rs1429181351
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892

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