ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
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.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.110+1G>C rs1555450716
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.179-1G>A rs988175540
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)
NM_032520.5(GNPTG):c.233+1G>T rs376679416
NM_032520.5(GNPTG):c.233+2T>A rs1555451608
NM_032520.5(GNPTG):c.233+2T>C rs1555451608
NM_032520.5(GNPTG):c.233+5G>A rs1060499691
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.318-28_351del rs2034895916
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)
NM_032520.5(GNPTG):c.583del (p.Leu195fs)
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.823+1G>T rs1385935677

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