ClinVar Miner

List of variants reported as benign for PHARC syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001042472.2(ABHD12):c.-220G>A rs3827014 0.54397
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_001042472.3(ABHD12):c.*148C>T rs1046073 0.44458
NM_001042472.3(ABHD12):c.*297C>G rs11100 0.44435
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_001042472.3(ABHD12):c.*83G>A rs2424708 0.37241
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_001042472.3(ABHD12):c.-94C>T rs536190889 0.02252
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930 0.00770
NM_001042472.3(ABHD12):c.*541G>A rs41304802 0.00734
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860 0.00029
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297

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