ClinVar Miner

List of variants in gene ABHD12 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893

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