ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2S

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Total variants: 4
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NM_021942.5(TRAPPC11):c.1287+5G>A rs397509418
NM_021942.5(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_021942.5(TRAPPC11):c.2694+1G>T rs1186858080

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