List of variants reported as likely pathogenic for X-linked myotubular myopathy by Genetic Services Laboratory, University of Chicago

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg)	rs587783750
NM_000252.3(MTM1):c.1180G>C (p.Asp394His)	rs587783760
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys)	rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val)	rs587783765
NM_000252.3(MTM1):c.1260+5G>A	rs587783769
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu)	rs587783774
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn)	rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala)	rs587783777
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser)	rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp)	rs587783787
NM_000252.3(MTM1):c.342+4A>G	rs587783820
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)	rs587783838
NM_000252.3(MTM1):c.63+3A>T	rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)	rs587783848
NM_000252.3(MTM1):c.743G>T (p.Gly248Val)	rs587783853
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del)	rs587783862

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