ClinVar Miner

List of variants reported as benign for Pyridoxal phosphate-responsive seizures

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.*2008A>G rs1986693 0.74708
NM_018129.4(PNPO):c.*904A>G rs1962201 0.64931
NM_018129.4(PNPO):c.*512A>C rs7220104 0.38852
NM_018129.4(PNPO):c.364-36C>T rs2002136 0.35597
NM_018129.4(PNPO):c.*825C>A rs2325749 0.27084
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_018129.4(PNPO):c.*1883G>C rs1986694 0.09285
NM_018129.4(PNPO):c.*352G>C rs16949676 0.06547
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_018129.4(PNPO):c.*106A>T rs117508783 0.03135
NM_018129.4(PNPO):c.*1668G>A rs7208554 0.02054
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_018129.4(PNPO):c.546+15G>A rs71377328 0.02044
NM_018129.4(PNPO):c.*611C>T rs7219707 0.02041
NM_018129.4(PNPO):c.*1048C>T rs114087393 0.01088
NM_018129.4(PNPO):c.*1580G>A rs143175555 0.00856
NM_018129.4(PNPO):c.*2291G>A rs76311835 0.00120
NM_018129.4(PNPO):c.*341T>C rs78358763 0.00072
NM_018129.4(PNPO):c.*764dup rs199634607

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