ClinVar Miner

List of variants in gene PGAP3 studied for disorder of GPI anchor biosynthesis

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_033419.5(PGAP3):c.900-10T>C rs2247862 0.63744
NM_033419.5(PGAP3):c.465T>C (p.Val155=) rs2941504 0.63491
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_033419.5(PGAP3):c.477G>C (p.Arg159Ser) rs150483675 0.00074
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu) rs202146344 0.00017
NM_033419.5(PGAP3):c.558-10G>A rs200598755 0.00009
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.914A>G (p.Asp305Gly) rs587777252 0.00005
NM_033419.5(PGAP3):c.856A>G (p.Ile286Val) rs760923040 0.00003
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter) rs1242562412 0.00002
NM_033419.5(PGAP3):c.307C>G (p.Gln103Glu) rs900578977 0.00001
NM_033419.5(PGAP3):c.694+1G>A rs144574243 0.00001
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys) rs869312813 0.00001
NM_033419.5(PGAP3):c.181+1G>T
NM_033419.5(PGAP3):c.265C>T (p.Gln89Ter)
NM_033419.5(PGAP3):c.275G>A (p.Gly92Asp) rs587777251
NM_033419.5(PGAP3):c.280del (p.Trp94fs) rs1555610292
NM_033419.5(PGAP3):c.314C>A (p.Pro105Gln)
NM_033419.5(PGAP3):c.314C>G (p.Pro105Arg) rs371549948
NM_033419.5(PGAP3):c.355del (p.Leu119fs)
NM_033419.5(PGAP3):c.402dup (p.Met135fs) rs869312812
NM_033419.5(PGAP3):c.432+1G>A rs1555610241
NM_033419.5(PGAP3):c.439dup (p.Leu147fs) rs869312815
NM_033419.5(PGAP3):c.43dup (p.Ala15fs)
NM_033419.5(PGAP3):c.452dup (p.Trp152fs) rs2057353122
NM_033419.5(PGAP3):c.455G>A (p.Trp152Ter) rs2057353041
NM_033419.5(PGAP3):c.507C>A (p.Tyr169Ter) rs1567871748
NM_033419.5(PGAP3):c.50_52delinsC (p.Leu17fs) rs2145169684
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg) rs869312816
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr) rs2145100763
NM_033419.5(PGAP3):c.754C>T (p.His252Tyr) rs1440802425
NM_033419.5(PGAP3):c.75_81dup (p.Val28Ter) rs2057593272
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro) rs869312817
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly) rs869312814
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_033419.5(PGAP3):c.896dup (p.Ser300fs)

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