ClinVar Miner

List of variants reported as likely benign for Juvenile myoclonic epilepsy; Typical absence seizures

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Total variants: 28
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HGVS dbSNP
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=) rs1163603161
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=) rs200024100
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=) rs546464826
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg) rs200328198
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
NM_018100.4(EFHC1):c.1641-8C>A rs1222704866
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=) rs1045298708
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=) rs137869409
NM_018100.4(EFHC1):c.1851+8T>A
NM_018100.4(EFHC1):c.1852-6C>G rs372507832
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672
NM_018100.4(EFHC1):c.249G>A (p.Ala83=) rs149627167
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys) rs200375854
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn) rs146467751
NM_018100.4(EFHC1):c.681A>G (p.Ser227=) rs772096798
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088

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