ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2E by Genome-Nilou Lab

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.244-21T>C rs225170 0.43577
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp) rs753684563 0.00009
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003

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