List of variants reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 by Baylor Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)	rs149747266	0.00006
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp)	rs746916767	0.00001
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro)	rs756533976
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser)	rs768675700

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