ClinVar Miner

List of variants in gene GNPTG reported as pathogenic by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.445del (p.Ala149fs) rs281864956
NM_032520.5(GNPTG):c.609+28_610-16del rs193302853
NM_032520.5(GNPTG):c.610-1G>T rs193302854

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