ClinVar Miner

List of variants studied for arthrogryposis multiplex congenita 2, neurogenic type by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243
NM_018668.5(VPS33B):c.558_559del (p.Tyr187fs) rs1596358564
NM_139284.3(LGI4):c.2T>C (p.Met1Thr) rs1207534366

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