List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 by Invitae

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn)	rs753340395	0.00004
NM_152490.5(B3GALNT2):c.1311+1G>C	rs1379052702	0.00001
NM_152490.5(B3GALNT2):c.762+1G>A	rs757347274	0.00001
NM_152490.5(B3GALNT2):c.842-1G>A	rs764784497	0.00001
NC_000001.10:g.(?_235634154)_(235647841_?)dup
NM_152490.5(B3GALNT2):c.113-1G>C	rs2102863392
NM_152490.5(B3GALNT2):c.1311+1G>A	rs1379052702
NM_152490.5(B3GALNT2):c.1418CTC[1] (p.Pro474del)	rs752758430
NM_152490.5(B3GALNT2):c.362-1G>C	rs2102844404
NM_152490.5(B3GALNT2):c.652-2A>G	rs1553347936
NM_152490.5(B3GALNT2):c.841+1G>T
NM_152490.5(B3GALNT2):c.842-1G>C	rs764784497

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