ClinVar Miner

List of variants in gene GNPTG reported as pathogenic

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Gene type:
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Total variants: 75
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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.758C>A (p.Ser253Ter) rs761299690 0.00008
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.271C>T (p.Gln91Ter) rs1394867404 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.125_126delinsAG (p.Phe42Ter)
NM_032520.5(GNPTG):c.133C>T (p.Gln45Ter) rs2141633130
NM_032520.5(GNPTG):c.183dup (p.Val62fs) rs1291377834
NM_032520.5(GNPTG):c.187dup (p.His63fs)
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032520.5(GNPTG):c.202del (p.Ser68fs)
NM_032520.5(GNPTG):c.203C>A (p.Ser68Ter) rs552402857
NM_032520.5(GNPTG):c.233+1G>C rs376679416
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.234-1G>C rs112850896
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.294G>A (p.Trp98Ter) rs757581909
NM_032520.5(GNPTG):c.300del (p.Tyr101fs)
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.318-1G>C rs193302847
NM_032520.5(GNPTG):c.318-28_351del rs2034895916
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.355_356dup (p.Gly120fs)
NM_032520.5(GNPTG):c.363_364insA (p.Trp122fs)
NM_032520.5(GNPTG):c.365G>A (p.Trp122Ter) rs1291093292
NM_032520.5(GNPTG):c.366G>A (p.Trp122Ter) rs757394606
NM_032520.5(GNPTG):c.384_385dup (p.Cys129fs)
NM_032520.5(GNPTG):c.385_400del (p.Cys129fs) rs2141862610
NM_032520.5(GNPTG):c.417_429del (p.Leu140fs) rs2141862900
NM_032520.5(GNPTG):c.436_446del (p.Asn146fs) rs1555451874
NM_032520.5(GNPTG):c.445del (p.Ala149fs) rs281864956
NM_032520.5(GNPTG):c.461_465del (p.Pro154fs)
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs) rs753596034
NM_032520.5(GNPTG):c.514del (p.His172fs) rs1321245057
NM_032520.5(GNPTG):c.564G>A (p.Trp188Ter)
NM_032520.5(GNPTG):c.568C>T (p.Gln190Ter)
NM_032520.5(GNPTG):c.571del (p.Gln190_Val191insTer) rs2141863595
NM_032520.5(GNPTG):c.592G>T (p.Glu198Ter)
NM_032520.5(GNPTG):c.601_602dup (p.Gln203fs) rs2141863669
NM_032520.5(GNPTG):c.607C>T (p.Gln203Ter) rs2141863683
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.608dup (p.His205fs)
NM_032520.5(GNPTG):c.609+1G>A
NM_032520.5(GNPTG):c.609+1G>T rs1260510628
NM_032520.5(GNPTG):c.609+1del
NM_032520.5(GNPTG):c.609+28_610-16del rs193302853
NM_032520.5(GNPTG):c.609+2T>G
NM_032520.5(GNPTG):c.610-1G>A
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.632_639dup (p.Glu214fs)
NM_032520.5(GNPTG):c.636_648del (p.Phe213fs)
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.654_657del (p.Gly217_Tyr218insTer)
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) rs2034926616
NM_032520.5(GNPTG):c.659dup (p.Thr221fs) rs2141864067
NM_032520.5(GNPTG):c.665del (p.Pro222fs)
NM_032520.5(GNPTG):c.665dup (p.Glu223fs) rs2141864091
NM_032520.5(GNPTG):c.670G>T (p.Glu224Ter)
NM_032520.5(GNPTG):c.685C>T (p.Gln229Ter) rs2141864128
NM_032520.5(GNPTG):c.701del (p.Pro234fs)
NM_032520.5(GNPTG):c.714del (p.Phe239fs) rs776107971
NM_032520.5(GNPTG):c.717del (p.Phe239fs) rs2141864300
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) rs2141864418
NM_032520.5(GNPTG):c.739A>T (p.Lys247Ter) rs1451538466
NM_032520.5(GNPTG):c.750_753del (p.Lys250fs) rs766055577
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081

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