ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2N by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.333+1G>T

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