ClinVar Miner

List of variants reported as pathogenic for disorder of GPI anchor biosynthesis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_033419.5(PGAP3):c.827C>T (p.Pro276Leu) rs750093817 0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_176787.5(PIGN):c.963G>A (p.Gln321=) rs587777187 0.00002
NM_176787.5(PIGN):c.2126G>A (p.Arg709Gln) rs397514475 0.00001
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)
NM_001127178.3(PIGG):c.901+1del rs782318668
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945
NM_004855.5(PIGB):c.91A>T (p.Lys31Ter)
NM_005482.3(PIGK):c.329_330insTT (p.Leu110_Asn111insTer)
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_033198.4(PIGS):c.662_663del (p.Leu221fs)
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797

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