ClinVar Miner

List of variants studied for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter) rs199801224 0.00006
NM_152906.7(TANGO2):c.220A>C (p.Thr74Pro) rs1235314092
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp) rs2518903115

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