ClinVar Miner

List of variants in gene DEPDC5 studied for childhood epilepsy with centrotemporal spikes

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.2135C>T (p.Ser712Phe) rs16989535 0.02396
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001242896.3(DEPDC5):c.-57G>C rs1383795440 0.00001
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) rs768456731 0.00001
NM_001242896.3(DEPDC5):c.2492_2493insAGA (p.Ser831delinsArgAsp) rs1555897392
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs) rs886039266
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly) rs886039280
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) rs187334123

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