ClinVar Miner

List of variants reported as benign for Juvenile myoclonic epilepsy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.*5385C>T rs1568673 0.93666
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_000726.5(CACNB4):c.*442G>A rs7597215 0.39502
NM_000726.5(CACNB4):c.*3804G>C rs2344734 0.33115
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_000726.5(CACNB4):c.*1185T>C rs13410490 0.11625
NM_000726.5(CACNB4):c.*1186G>T rs72868010 0.09750
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=) rs1805028 0.05818
NM_000726.5(CACNB4):c.762T>A (p.Ile254=) rs61736804 0.05586
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_000726.5(CACNB4):c.*5029T>C rs16830412 0.05230
NM_000726.5(CACNB4):c.*890G>C rs78697588 0.04885
NM_000726.5(CACNB4):c.*3157T>A rs10497086 0.02768
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_000726.5(CACNB4):c.-25G>T rs143675846 0.00516
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_000726.5(CACNB4):c.*2188del rs75297236
NM_000726.5(CACNB4):c.*624del rs11291336
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506

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