ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type R18 by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (1):

Autosomal recessive limb-girdle muscular dystrophy type R18

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly)	rs143990563	0.00064
NM_021942.6(TRAPPC11):c.1568-1G>A	rs1180079162

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