ClinVar Miner

List of variants in gene YEATS2 studied for benign adult familial myoclonic epilepsy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_018023.5(YEATS2):c.3582+10A>G rs263042 0.46511
NM_018023.5(YEATS2):c.537+48_537+49insG rs3841649 0.44331
NM_018023.5(YEATS2):c.1588G>A (p.Val530Ile) rs262993 0.38998
NM_018023.5(YEATS2):c.1601C>A (p.Thr534Lys) rs34759333 0.01226
NG_054747.1:g.(19392_19426)TTTTA[(7_?)]TTTCA[(n)]
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)
NM_018023.5(YEATS2):c.1947+46_1947+48del rs3830564
NM_018023.5(YEATS2):c.2412AGG[8] (p.Gly814del) rs146705467
NM_018023.5(YEATS2):c.292-27T>C rs116502703
NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr) rs2108544825
NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu) rs1716550954

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