List of variants studied for MYH7-related skeletal myopathy by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	rs2754158	0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)	rs45511396	0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His)	rs397516260	0.00003
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	rs121913627	0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	rs145213771	0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)	rs760187215	0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	rs753392652	0.00001
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)	rs727504753
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	rs397516171
NM_000257.4(MYH7):c.345+1G>A	rs112907315
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)	rs878853840
NM_000257.4(MYH7):c.732+1del	rs397516266

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