ClinVar Miner

List of variants in gene ABHD12 reported as benign for PHARC syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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NM_001042472.2(ABHD12):c.-220G>A rs3827014
NM_001042472.3(ABHD12):c.*148C>T rs1046073
NM_001042472.3(ABHD12):c.*297C>G rs11100
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.*83G>A rs2424708
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042472.3(ABHD12):c.-94C>T rs536190889
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027

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