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

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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_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	rs768768823	0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	rs1397859218	0.00001
NC_012920.1:m.3243A>G	rs199474657
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)	rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)	rs1057516031
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)	rs1366464512
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	rs121908333

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