List of variants in gene GNPTAB reported as pathogenic by GeneDx

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

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.2715+2T>G	rs281865001	0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)	rs281864969	0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)	rs137852897	0.00001
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs)	rs281864976
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)	rs78347057
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)	rs397507448
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs)	rs747789493
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs)	rs281864991
NM_024312.5(GNPTAB):c.3281_3282del (p.Asn1093_Cys1094insTer)	rs1594207573
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)	rs281865018
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)	rs281864955
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)	rs281865024

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