ClinVar Miner

Variants in gene GNPTG with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769

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