ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N by New York Genome Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923

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