ClinVar Miner

List of variants in gene PIGL reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 0.00004
NM_004278.4(PIGL):c.176C>A (p.Pro59His) rs1057518948
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro) rs750654333

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