ClinVar Miner

List of variants reported as uncertain significance for developmental and epileptic encephalopathy, 67

Included ClinVar conditions (1):
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_015267.4(CUX2):c.4108G>A (p.Gly1370Arg) rs143575822 0.00124
NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala) rs1381221552 0.00001
NM_015267.4(CUX2):c.1603C>T (p.Pro535Ser) rs1365473132 0.00001
NM_015267.4(CUX2):c.1795C>A (p.Arg599Ser) rs200707164 0.00001
NM_015267.4(CUX2):c.1922G>A (p.Arg641His) rs371998616 0.00001
NM_015267.4(CUX2):c.2708G>A (p.Arg903His) rs1376326529 0.00001
NM_015267.4(CUX2):c.3702T>G (p.Asp1234Glu) rs1353211680 0.00001
NM_015267.4(CUX2):c.4297C>T (p.Pro1433Ser) rs761281334 0.00001
NM_015267.4(CUX2):c.1006G>A (p.Ala336Thr)
NM_015267.4(CUX2):c.1287C>G (p.Ile429Met)
NM_015267.4(CUX2):c.137T>C (p.Ile46Thr) rs371927310
NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu) rs2136373221
NM_015267.4(CUX2):c.1486G>C (p.Ala496Pro)
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
NM_015267.4(CUX2):c.1631C>T (p.Ala544Val)
NM_015267.4(CUX2):c.167T>C (p.Val56Ala)
NM_015267.4(CUX2):c.1816_1822del (p.Lys606fs)
NM_015267.4(CUX2):c.1901-9C>A
NM_015267.4(CUX2):c.1913C>T (p.Pro638Leu)
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
NM_015267.4(CUX2):c.2101C>A (p.Arg701Ser)
NM_015267.4(CUX2):c.2192C>A (p.Pro731Gln)
NM_015267.4(CUX2):c.220G>A (p.Glu74Lys)
NM_015267.4(CUX2):c.223-1G>A
NM_015267.4(CUX2):c.2408T>A (p.Val803Glu)
NM_015267.4(CUX2):c.2435C>T (p.Ser812Phe)
NM_015267.4(CUX2):c.2482G>C (p.Asp828His) rs1887467909
NM_015267.4(CUX2):c.2501C>G (p.Pro834Arg)
NM_015267.4(CUX2):c.2502dup (p.Glu835fs) rs1565917672
NM_015267.4(CUX2):c.2531A>G (p.Asp844Gly)
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
NM_015267.4(CUX2):c.2983G>A (p.Glu995Lys)
NM_015267.4(CUX2):c.3008G>A (p.Ser1003Asn)
NM_015267.4(CUX2):c.3133C>T (p.Pro1045Ser) rs759732385
NM_015267.4(CUX2):c.3196+10G>A
NM_015267.4(CUX2):c.3341A>C (p.His1114Pro)
NM_015267.4(CUX2):c.3556G>T (p.Ala1186Ser)
NM_015267.4(CUX2):c.358A>C (p.Ser120Arg)
NM_015267.4(CUX2):c.3728G>A (p.Gly1243Asp)
NM_015267.4(CUX2):c.4009G>A (p.Gly1337Ser)
NM_015267.4(CUX2):c.4124C>T (p.Pro1375Leu)
NM_015267.4(CUX2):c.4141A>C (p.Lys1381Gln)
NM_015267.4(CUX2):c.4291A>G (p.Lys1431Glu)
NM_015267.4(CUX2):c.4331C>A (p.Ala1444Asp)
NM_015267.4(CUX2):c.4417G>A (p.Glu1473Lys)
NM_015267.4(CUX2):c.485G>C (p.Ser162Thr)
NM_015267.4(CUX2):c.561-4G>A
NM_015267.4(CUX2):c.646G>T (p.Ala216Ser)
NM_015267.4(CUX2):c.79G>T (p.Val27Phe) rs200420920
NM_015267.4(CUX2):c.935G>A (p.Arg312Gln)

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