List of variants studied for Myopathy, centronuclear, 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys)	rs148422103	0.00152
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)	rs146573197	0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)	rs143820618	0.00034
NM_139343.3(BIN1):c.1462-3C>T	rs200384643	0.00006
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)	rs794727107	0.00003

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