ClinVar Miner

Variants in gene ALDH5A1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=) rs143486700 0.00217
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser) rs62621664

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