ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2D by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)	rs770516658	0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)	rs759692350	0.00001
NM_000023.4(SGCA):c.37+6T>C	rs751466815

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