ClinVar Miner

List of variants in gene PIGT reported as benign for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) rs61753669 0.01749
NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) rs36056071 0.00999
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) rs80158178 0.00413
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_015937.6(PIGT):c.12T>C (p.Ala4=) rs371353348 0.00172
NM_015937.6(PIGT):c.33C>T (p.Val11=)
NM_015937.6(PIGT):c.594+36dup rs3092108

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