ClinVar Miner

List of variants reported as pathogenic for mucolipidosis type II by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)	rs78347057
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_024312.5(GNPTAB):c.3653del (p.Thr1218fs)	rs2137097782

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