List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Suma Genomics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000070.3(CAPN3):c.1247del (p.Leu416fs)
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro)	rs2148456078
NM_001100.4(ACTA1):c.589G>A (p.Glu197Lys)
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)	rs554813030
NM_025207.5(FLAD1):c.512_528del (p.Thr171fs)
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys)	rs2102817952

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