List of variants in gene GNPTAB reported as pathogenic for GNPTAB-related disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)	rs397507447	0.00009
NM_024312.5(GNPTAB):c.2715+1G>A	rs281865031	0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	rs137852897	0.00001
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)	rs281864983
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)	rs281865024

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