List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014254.3(RXYLT1):c.237C>G (p.His79Gln)	rs200620643	0.00017
NM_014254.3(RXYLT1):c.17A>G (p.Lys6Arg)	rs145516652	0.00012
NM_014254.3(RXYLT1):c.1332A>C (p.Ter444Tyr)	rs922693472	0.00001
NM_014254.3(RXYLT1):c.914+6T>G	rs748809209	0.00001
NC_000012.11:g.(?_64198994)_(64199204_?)dup
NM_014254.3(RXYLT1):c.233A>G (p.Gln78Arg)
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
NM_014254.3(RXYLT1):c.920A>G (p.Gln307Arg)	rs866198592
NM_014254.3(RXYLT1):c.92G>T (p.Arg31Leu)	rs1897636551
NM_014254.3(RXYLT1):c.992C>T (p.Pro331Leu)

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