ClinVar Miner

List of variants reported as likely pathogenic for Glycosylphosphatidylinositol biosynthesis defect 15

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_003801.4(GPAA1):c.1165-1C>T rs187027021 0.00003
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter) rs782498857 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.152C>T (p.Ser51Leu) rs1554763770
NM_003801.4(GPAA1):c.367-1G>A rs113583033
NM_003801.4(GPAA1):c.43del (p.Arg15fs) rs2129936761
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740

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