List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 by Invitae

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_032806.6(POMGNT2):c.1232del (p.Gln411fs)	rs755487513	0.00002
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu)	rs374042455	0.00002
NM_032806.6(POMGNT2):c.509del (p.Asp170fs)	rs2089847365	0.00001
NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn)	rs768063378	0.00001
NC_000003.11:g.(?_43121181)_(43122923_?)del
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)	rs2089839448
NM_032806.6(POMGNT2):c.1042C>T (p.Gln348Ter)	rs1021357430
NM_032806.6(POMGNT2):c.118C>T (p.Arg40Ter)	rs2089853535
NM_032806.6(POMGNT2):c.1258del (p.Ala420fs)	rs1575461722
NM_032806.6(POMGNT2):c.1326G>A (p.Trp442Ter)	rs2125699699
NM_032806.6(POMGNT2):c.1510del (p.Val504fs)
NM_032806.6(POMGNT2):c.381_382del (p.Gln128fs)
NM_032806.6(POMGNT2):c.40del (p.Val14fs)
NM_032806.6(POMGNT2):c.410_411delinsG (p.Ala137fs)	rs2125700808
NM_032806.6(POMGNT2):c.817_818del (p.Glu273fs)
NM_032806.6(POMGNT2):c.820_821del (p.Lys274fs)	rs2125700249

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