List of variants in gene GNPTAB studied for Mucolipidosis, Type III Alpha/Beta

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.*1632del	rs370646056	0.00334
NM_024312.5(GNPTAB):c.*1233T>G	rs886048841	0.00002
NM_024312.5(GNPTAB):c.*1109GTT[8]	rs371050894
NM_024312.5(GNPTAB):c.*419del	rs768136710
NM_024312.5(GNPTAB):c.*419dup	rs768136710
NM_024312.5(GNPTAB):c.*558del	rs886048845
NM_024312.5(GNPTAB):c.*888AG[3]	rs59855215
NM_024312.5(GNPTAB):c.*920G>A	rs886048843
NM_024312.5(GNPTAB):c.-62GGC[7]	rs76300806

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