ClinVar Miner

List of variants in gene GNPTG reported by Counsyl

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) rs761584357 0.00002
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
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.234-1G>A rs112850896
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.328G>T (p.Glu110Ter) rs763678034
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) rs1555451962
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln) rs749314645
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del) rs1555452031
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) rs758242017
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.814_816del (p.Arg272del) rs1555452112
NM_032520.5(GNPTG):c.823+1G>T rs1385935677
NM_032520.5(GNPTG):c.824-39_824-13del rs1555452124
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup) rs1555452152
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter) rs1555452155
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter) rs772723751
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs) rs1555452172
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs) rs1555452169
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter) rs751864147
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs) rs1555452178
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) rs775705721
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs) rs1555452195

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