ClinVar Miner

List of variants in gene GNPTG reported by GeneDx

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.178+186C>T rs11865211 0.07224
NM_032520.5(GNPTG):c.318-34C>T rs2072987 0.01446
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.318-18G>A rs148378749 0.00190
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
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.318-1G>A rs193302847
NM_032520.5(GNPTG):c.376G>C (p.Gly126Arg) rs775359476
NM_032520.5(GNPTG):c.526+41G>A
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.824-33C>T

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