ClinVar Miner

List of variants in gene GNPTAB studied for Mucolipidosis

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Total variants: 5
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NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs) rs281864964

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