List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Genetic Services Laboratory, University of Chicago

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001005361.3(DNM2):c.235+12C>A	rs147026993	0.00953
NM_139343.3(BIN1):c.30G>A (p.Thr10=)	rs35535012	0.00067
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)	rs116164106	0.00057
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)	rs201763720	0.00014
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)	rs371412466	0.00013
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)	rs587783806	0.00011
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)	rs554971107	0.00006
NM_139343.3(BIN1):c.1461C>T (p.Ser487=)	rs34647988	0.00004
NM_133642.5(LARGE1):c.615+8C>T	rs587783731	0.00002
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)	rs587783781
NM_000252.3(MTM1):c.137-7T>G	rs587783784
NM_000252.3(MTM1):c.141A>G (p.Lys47=)	rs587783790
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys)	rs587783829
NM_139343.3(BIN1):c.957C>A (p.Ala319=)	rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=)	rs2276579

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