ClinVar Miner

List of variants studied for arthrogryposis, renal dysfunction, and cholestasis 2 by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243

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