ClinVar Miner

List of variants reported as likely pathogenic for Myoclonic-atonic epilepsy

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Total variants: 7
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HGVS dbSNP
NC_000003.12:g.11025535del
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003042.4(SLC6A1):c.1427-1G>A rs1553691674
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr) rs1559639240
NM_003042.4(SLC6A1):c.1528-1G>C
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg) rs1064795852
NM_003042.4(SLC6A1):c.471+1G>T rs1559623389

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