ClinVar Miner

List of variants studied for disorder of GPI anchor biosynthesis by 3billion, Medical Genetics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00012
NM_004204.5(PIGQ):c.530G>A (p.Arg177His) rs774945335 0.00006
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr) rs767785877 0.00005
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp) rs527236031 0.00004
NM_003801.4(GPAA1):c.1165-1C>T rs187027021 0.00003
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs) rs1491240980 0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter) rs756632799 0.00001
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
NM_002641.4(PIGA):c.986T>C (p.Val329Ala) rs1921924356
NM_003896.4(ST3GAL5):c.83-4119G>A
NM_004278.4(PIGL):c.154_161del (p.Asp52fs) rs2142610073
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) rs1064795400
NM_033419.5(PGAP3):c.314C>A (p.Pro105Gln)
NM_033419.5(PGAP3):c.452dup (p.Trp152fs) rs2057353122
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr) rs2145100763
NM_033419.5(PGAP3):c.850C>G (p.His284Asp)

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