ClinVar Miner

List of variants in gene GNPTG reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
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.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032520.5(GNPTG):c.527-10G>A rs1336176104 0.00001
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.4(GNPTG):c.611delG rs193302856
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter) rs763678034
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.445del (p.Ala149fs) rs281864956
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs) rs753596034
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+28_610-16del rs193302853
NM_032520.5(GNPTG):c.610-1G>A
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer) rs193302858
NM_032520.5(GNPTG):c.639del (p.Phe213fs) rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) rs193302859
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) rs2034926616
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) rs2141864418

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