List of variants in gene combination LOC130056175, POMT2 reported as uncertain significance 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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.700G>A (p.Val234Ile)	rs576822260	0.00009
NM_013382.7(POMT2):c.661T>A (p.Phe221Ile)	rs746803006	0.00001
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg)	rs771995900	0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe)	rs754512099	0.00001
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser)	rs771201662
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu)	rs1555354184
NM_013382.7(POMT2):c.671C>T (p.Pro224Leu)
NM_013382.7(POMT2):c.690C>G (p.Ser230Arg)

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