ClinVar Miner

List of variants in gene PIGL reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.427-1G>A rs770084126
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722

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