ClinVar Miner

List of variants studied for arthrogryposis, renal dysfunction, and cholestasis 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.1180-1G>C
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)

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