List of variants reported as pathogenic for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter)	rs140115503	0.00006
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)	rs199801224	0.00006
NM_152906.7(TANGO2):c.605+1G>A	rs372949028	0.00005
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter)	rs1162037663	0.00001
NM_152906.7(TANGO2):c.418C>T (p.Arg140Ter)	rs764883927	0.00001
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)	rs752298579	0.00001
NM_152906.7(TANGO2):c.711-3C>G	rs367912276	0.00001
GRCh37/hg19 22q11.21(chr22:20029135-20062954)
GRCh37/hg19 22q11.21(chr22:20036384-20045784)
NC_000022.11:g.20039637_20075714del
NC_000022.11:g.20041466_20075200del
NC_000022.11:g.20041469_20075432del
NM_152906.5(TANGO2):c.57-1743_*10769del
NM_152906.7(TANGO2):c.146-3605_451+2245del
NM_152906.7(TANGO2):c.280del (p.His94fs)
NM_152906.7(TANGO2):c.4del (p.Cys2fs)	rs869320693
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg)	rs1191958022

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