ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_021942.6(TRAPPC11):c.1192C>T (p.Arg398Ter) rs140403642 0.00003
NM_001199563.2(BVES):c.262C>T (p.Arg88Ter) rs796206315 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001

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