ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330

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