List of variants in gene GNPTAB reported by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)	rs117566084	0.00508
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys)	rs137853825	0.00043
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=)	rs141529327	0.00042
NM_024312.5(GNPTAB):c.1433T>C (p.Ile478Thr)	rs149718548	0.00021
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=)	rs192607073	0.00012
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=)	rs775742250	0.00001
NM_024312.5(GNPTAB):c.2094A>G (p.Val698=)	rs778029826	0.00001
NM_024312.5(GNPTAB):c.2119G>A (p.Ala707Thr)	rs376620571	0.00001
NM_024312.5(GNPTAB):c.1547A>T (p.Asp516Val)
NM_024312.5(GNPTAB):c.2499A>G (p.Glu833=)	rs77410031
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)	rs34002892
NM_024312.5(GNPTAB):c.3602+348C>T
NM_024312.5(GNPTAB):c.69C>T (p.Cys23=)
NM_024312.5(GNPTAB):c.879A>G (p.Lys293=)	rs938200881

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