ClinVar Miner

List of variants in gene GNPTAB reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 6
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HGVS dbSNP
NM_024312.5(GNPTAB):c.1053C>T (p.Asn351=) rs749261391
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553
NM_024312.5(GNPTAB):c.3114C>T (p.His1038=) rs148918729
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628

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