List of variants reported as likely pathogenic for congenital myopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_005262.3(GFER):c.580C>T (p.Arg194Cys)	rs780851934	0.00003
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)	rs587783766
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)	rs1366464512
NM_001164508.2(NEB):c.23742+1G>A
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter)	rs1213930919
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)	rs1064792872
NM_002495.4(NDUFS4):c.350+1G>T
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.287G>T (p.Gly96Val)	rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)

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