ClinVar Miner

List of variants reported as likely pathogenic for Mucolipidosis type III gamma

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Total variants: 21
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HGVS dbSNP
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.110+1G>C
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.233+1G>A rs376679416
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.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.318-28_351del
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.53-2A>G rs779597308
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.742-1G>T rs373976323
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.823+1G>T rs1385935677

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