ClinVar Miner

List of variants in gene PGAP3 studied for Inborn genetic diseases

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.743G>A (p.Arg248Gln) rs114810857 0.00140
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser) rs150483675 0.00074
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00007
NM_033419.5(PGAP3):c.209A>T (p.Tyr70Phe) rs146132289 0.00006
NM_033419.5(PGAP3):c.653G>A (p.Arg218His) rs749401877 0.00003
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter) rs1242562412 0.00002
NM_033419.5(PGAP3):c.175C>G (p.Leu59Val) rs781433220 0.00001
NM_033419.5(PGAP3):c.148C>T (p.Arg50Cys)
NM_033419.5(PGAP3):c.149G>A (p.Arg50His)
NM_033419.5(PGAP3):c.205A>T (p.Lys69Ter)
NM_033419.5(PGAP3):c.24G>C (p.Leu8Phe)
NM_033419.5(PGAP3):c.251G>A (p.Gly84Asp)
NM_033419.5(PGAP3):c.332C>T (p.Ser111Leu)
NM_033419.5(PGAP3):c.335T>C (p.Phe112Ser)
NM_033419.5(PGAP3):c.356T>C (p.Leu119Pro)
NM_033419.5(PGAP3):c.358G>A (p.Val120Met)
NM_033419.5(PGAP3):c.376C>T (p.Arg126Cys)
NM_033419.5(PGAP3):c.400C>G (p.Pro134Ala)
NM_033419.5(PGAP3):c.443A>C (p.Asn148Thr)
NM_033419.5(PGAP3):c.460A>G (p.Thr154Ala)
NM_033419.5(PGAP3):c.473C>G (p.Thr158Ser)
NM_033419.5(PGAP3):c.521C>T (p.Thr174Ile)
NM_033419.5(PGAP3):c.587T>C (p.Val196Ala)
NM_033419.5(PGAP3):c.706G>A (p.Val236Met)
NM_033419.5(PGAP3):c.757G>A (p.Val253Met)
NM_033419.5(PGAP3):c.819C>A (p.Asp273Glu)
NM_033419.5(PGAP3):c.938C>T (p.Ser313Leu)

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