List of variants reported as pathogenic for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 by Baylor Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	rs200198778	0.00010
NM_013382.7(POMT2):c.1006+1G>A	rs533916138	0.00003
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	rs727502855	0.00002
NM_013382.7(POMT2):c.1237C>T (p.Arg413Ter)	rs773017813	0.00001
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)	rs766169193	0.00001
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter)	rs119463989	0.00001
NM_013382.7(POMT2):c.1051del (p.Ala351fs)
NM_013382.7(POMT2):c.287A>G (p.Tyr96Cys)
NM_013382.7(POMT2):c.333+1G>A
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
NM_013382.7(POMT2):c.924-2A>C	rs886044256

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