ClinVar Miner

List of variants studied for Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00023
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00018
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00009
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00003
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr) rs745535369 0.00002
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400 0.00001
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263

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