ClinVar Miner

List of variants studied for autosomal recessive disease by Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) rs768090444
NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) rs758058910

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