List of variants in gene GNPTG reported by GeneReviews

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)	rs193302860	0.00043
NM_032520.5(GNPTG):c.610-2A>G	rs193302855	0.00004
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)	rs193302848	0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)	rs137852885	0.00001
NM_032520.4(GNPTG):c.611delG	rs193302856
NM_032520.5(GNPTG):c.318-1G>C	rs193302847
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)	rs137852884
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)	rs193302849
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)	rs193302850
NM_032520.5(GNPTG):c.445del (p.Ala149fs)	rs281864956
NM_032520.5(GNPTG):c.523dup (p.Leu175fs)	rs193302851
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)	rs1555451988
NM_032520.5(GNPTG):c.609+28_610-16del	rs193302853
NM_032520.5(GNPTG):c.610-1G>T	rs193302854
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)	rs193302857
NM_032520.5(GNPTG):c.639del (p.Phe213fs)	rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)	rs193302859

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