ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001042472.2(ABHD12):c.*320_*321delAG rs58058232
NM_001042472.2(ABHD12):c.*321G>T rs534140287
NM_001042472.2(ABHD12):c.*454G>A rs41309917
NM_001042472.2(ABHD12):c.-94C>T rs536190889
NM_001042472.2(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.2(ABHD12):c.1176G>A (p.Ser392=) rs184232860

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