ClinVar Miner

List of variants in gene ALAD reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
ALAD, IVS3AS, C-A, -11
NM_000031.6(ALAD):c.165-11C>T rs749066913
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980
NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) rs121912982
NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) rs121912983
NM_000031.6(ALAD):c.823G>A (p.Val275Met) rs121912981

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