ClinVar Miner

List of variants in gene combination ALAD, LOC130002419 reported as likely benign for hepatic porphyria

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000031.5(ALAD):c.-177C>T rs28550589 0.02747
NM_000031.6(ALAD):c.-131C>T rs531786276 0.00058
NM_000031.5(ALAD):c.-155C>G rs7026518
NM_000031.5(ALAD):c.-162_-161dup rs143518565
NM_000031.5(ALAD):c.-162dup rs143518565

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