List of variants reported as uncertain significance for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Revvity Omics, Revvity

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser)	rs150483675	0.00074
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)	rs139155910	0.00024
NM_032634.4(PIGO):c.1132C>T (p.Leu378Phe)	rs746870615	0.00016
NM_017837.4(PIGV):c.428A>G (p.His143Arg)	rs371892825	0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg)	rs775932562	0.00009
NM_017837.4(PIGV):c.808C>T (p.Arg270Cys)	rs374158705	0.00006
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly)	rs745318716	0.00003
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser)	rs936914222	0.00003
NM_001346754.2(PIGW):c.439G>A (p.Val147Met)
NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)
NM_017837.4(PIGV):c.320G>T (p.Gly107Val)
NM_017837.4(PIGV):c.452C>T (p.Ala151Val)
NM_032634.4(PIGO):c.1600G>A (p.Gly534Arg)
NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)
NM_176787.5(PIGN):c.2089G>T (p.Val697Phe)	rs763127430
NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)
NM_176787.5(PIGN):c.532G>A (p.Val178Ile)
NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)

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