ClinVar Miner

List of variants studied for Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_152906.7(TANGO2):c.56+219C>G rs186875212 0.00607
NM_152906.7(TANGO2):c.56+148C>T rs183601770 0.00243
NM_152906.7(TANGO2):c.719C>G (p.Thr240Ser) rs370778555 0.00015
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.263G>A (p.Arg88Gln) rs370517217 0.00004
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_152906.7(TANGO2):c.265G>T (p.Gly89Cys) rs1313698326 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.703G>A (p.Gly235Ser) rs771969240 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_001003800.2(BICD2):c.2383C>T (p.Arg795Trp) rs756421767
NM_152906.5(TANGO2):c.57-1743_*10769del
NM_152906.7(TANGO2):c.12CTT[1] (p.Phe6del) rs1228744373
NM_152906.7(TANGO2):c.145+1G>T
NM_152906.7(TANGO2):c.146-3605_451+2245del
NM_152906.7(TANGO2):c.220A>C (p.Thr74Pro)
NM_152906.7(TANGO2):c.280del (p.His94fs)
NM_152906.7(TANGO2):c.287T>G (p.Leu96Arg)
NM_152906.7(TANGO2):c.359A>G (p.Asn120Ser)
NM_152906.7(TANGO2):c.380+1G>A rs1602255030
NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn) rs2147637855
NM_152906.7(TANGO2):c.443T>G (p.Leu148Trp)
NM_152906.7(TANGO2):c.4del (p.Cys2fs) rs869320693
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del) rs2048401628
NM_152906.7(TANGO2):c.57-1G>C
NM_152906.7(TANGO2):c.57-3C>T rs750814833
NM_152906.7(TANGO2):c.59T>C (p.Leu20Pro)
NM_152906.7(TANGO2):c.59T>G (p.Leu20Arg) rs1191958022
NM_152906.7(TANGO2):c.634C>T (p.Gln212Ter)
NM_152906.7(TANGO2):c.648C>G (p.Tyr216Ter)
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln) rs896249235

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