ClinVar Miner

List of variants studied for benign adult familial myoclonic epilepsy by New York Genome Center

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020151.4(STARD7):c.418C>T (p.Arg140Cys) rs181733184 0.00006
NM_020151.4(STARD7):c.361C>T (p.Pro121Ser) rs200880792 0.00005
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00004
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428
NM_005885.4(MARCHF6):c.914-8C>G rs2126759091
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)
NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr) rs2108544825
NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu) rs1716550954
NM_020151.4(STARD7):c.175G>T (p.Gly59Cys) rs1436909374
NM_207506.3(SAMD12):c.13+16544C>A rs1827958407

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