List of variants in gene PLPBP reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.320-2A>G	rs1057519424	0.00001
NM_007198.4(PLPBP):c.722G>A (p.Arg241Gln)	rs760609867	0.00001
NC_000008.10:g.(?_37620178)_(37635622_?)del
NC_000008.10:g.(?_37632837)_(37633554_?)del
NM_007198.4(PLPBP):c.207+1G>C
NM_007198.4(PLPBP):c.207+1G>T
NM_007198.4(PLPBP):c.207C>A (p.Tyr69Ter)
NM_007198.4(PLPBP):c.233C>G (p.Ser78Ter)	rs1057519273
NM_007198.4(PLPBP):c.249_252del (p.Ser84fs)
NM_007198.4(PLPBP):c.292C>T (p.Gln98Ter)
NM_007198.4(PLPBP):c.316del (p.Met106fs)
NM_007198.4(PLPBP):c.370_373del (p.Asp124fs)	rs755595256
NM_007198.4(PLPBP):c.721C>T (p.Arg241Ter)

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