ClinVar Miner

List of variants in gene GNPTG reported as likely pathogenic for not provided

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.110+2T>C
NM_032520.5(GNPTG):c.111-1G>C
NM_032520.5(GNPTG):c.178+1G>C
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.178+2T>G
NM_032520.5(GNPTG):c.179-1G>A rs988175540
NM_032520.5(GNPTG):c.179-2A>G
NM_032520.5(GNPTG):c.317+2T>A
NM_032520.5(GNPTG):c.376G>C (p.Gly126Arg) rs775359476
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.526+1G>C
NM_032520.5(GNPTG):c.527-4_532del rs2034916882
NM_032520.5(GNPTG):c.610-5_610-1del rs2141863931

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