ClinVar Miner

List of variants in gene ALAD reported as benign for acute hepatic porphyria

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_000031.6(ALAD):c.*1950G>A rs818706
NM_000031.6(ALAD):c.*471C>T rs818708
NM_000031.6(ALAD):c.*613G>A rs818707
NM_000031.6(ALAD):c.*813A>G rs138705750
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000031.6(ALAD):c.397+12C>T rs8177805
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314

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