ClinVar Miner

List of variants studied for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Mendelics

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg) rs1138484 0.17151
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00006
NM_015937.6(PIGT):c.494-2A>G rs200790673 0.00006
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs) rs1602206514
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser) rs2147723760
NM_002641.4(PIGA):c.955G>A (p.Val319Met) rs765961204
NM_014489.4(PGAP2):c.391dup (p.Glu131fs) rs1590414565
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly) rs533117826
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly) rs551147697
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser) rs1590416370
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter) rs2146506059
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.491_492del (p.Glu164fs) rs748817187

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