ClinVar Miner

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

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000031.6(ALAD):c.*1950G>A rs818706 0.82956
NM_000031.6(ALAD):c.*471C>T rs818708 0.56706
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488 0.35967
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807 0.08960
NM_000031.6(ALAD):c.*613G>A rs818707 0.08941
NM_000031.6(ALAD):c.397+12C>T rs8177805 0.08288
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083 0.08221
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.05916
NM_000031.6(ALAD):c.*1737T>C rs11556126 0.01954
NM_000031.6(ALAD):c.398-13A>G rs34009418 0.01082
NM_000031.6(ALAD):c.*813A>G rs138705750 0.00033
NM_000031.6(ALAD):c.72C>T (p.Thr24=) rs1805314 0.00029
NM_000031.6(ALAD):c.*871C>A rs8177822

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