List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	rs201727685	0.00005
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His)	rs138867882	0.00001
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser)	rs1571892193
NM_001164508.2(NEB):c.19626+1G>A	rs756352186
NM_001164508.2(NEB):c.2416-1G>C	rs1553565278
NM_001164508.2(NEB):c.9812C>T (p.Ser3271Phe)
NM_001256007.3(PNPLA8):c.1614_1615insGG (p.Asn539fs)
NM_001267550.2(TTN):c.38767A>T (p.Lys12923Ter)	rs750990843
NM_001267550.2(TTN):c.96377G>A (p.Trp32126Ter)	rs1695634838
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu)	rs1060503711
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln)	rs778295360
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	rs2142289928
NM_018684.4(ZC4H2):c.226-1G>C

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