List of variants in gene PLPBP studied for epilepsy, early-onset, vitamin B6-dependent

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_007198.4(PLPBP):c.157A>G (p.Met53Val)	rs79148472	0.00331
NM_007198.4(PLPBP):c.704T>G (p.Val235Gly)	rs367850837	0.00014
NM_007198.4(PLPBP):c.207+1G>A	rs767795673	0.00010
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)	rs755946598	0.00006
NM_007198.4(PLPBP):c.137G>A (p.Ser46Asn)	rs372469431	0.00001
NM_007198.4(PLPBP):c.320-2A>G	rs1057519424	0.00001
NM_007198.4(PLPBP):c.524T>C (p.Leu175Pro)	rs752753379	0.00001
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp)	rs1384327533	0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln)	rs760609867	0.00001
NM_007198.4(PLPBP):c.793G>A (p.Val265Met)	rs1442084545	0.00001
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
NM_007198.4(PLPBP):c.204C>A (p.Asn68Lys)
NM_007198.4(PLPBP):c.207+1G>T
NM_007198.4(PLPBP):c.211C>T (p.Gln71Ter)	rs2129775201
NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter)	rs1057519273
NM_007198.4(PLPBP):c.347C>T (p.Thr116Ile)	rs1803807471
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs)	rs755595256
NM_007198.4(PLPBP):c.387del (p.Trp130fs)
NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)
NM_007198.4(PLPBP):c.455-16G>C
NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)
NM_007198.4(PLPBP):c.721C>T (p.Arg241Ter)
NM_007198.4(PLPBP):c.727G>A (p.Gly243Arg)
NM_007198.4(PLPBP):c.773del (p.Pro258fs)	rs764045400
NM_007198.4(PLPBP):c.823C>G (p.His275Asp)	rs1803966484

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