ClinVar Miner

List of variants in gene CIZ1, DNM1 studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224 0.00511
NM_004408.4(DNM1):c.117C>T (p.Gly39=) rs142432944 0.00008
NM_004408.4(DNM1):c.141G>T (p.Val47=) rs1269297218 0.00002
NM_004408.4(DNM1):c.161+11C>G rs1483670500 0.00002
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209 0.00001
NM_004408.4(DNM1):c.150T>C (p.Asn50=) rs769600214 0.00001
NM_004408.4(DNM1):c.3G>T (p.Met1Ile) rs1401701364 0.00001
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862 0.00001
NC_000009.11:g.(?_130928476)_(131004634_?)dup
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NM_004408.4(DNM1):c.108G>T (p.Val36=)
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
NM_004408.4(DNM1):c.114C>T (p.Gly38=) rs1326366504
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser) rs1554767313
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp) rs1833622746
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.138G>A (p.Ser46=) rs781131754
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser) rs759483040
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser) rs2131061694
NM_004408.4(DNM1):c.161+14G>A
NM_004408.4(DNM1):c.161+5_161+6delinsTT
NM_004408.4(DNM1):c.161+8C>T
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
NM_004408.4(DNM1):c.38T>C (p.Val13Ala) rs969698049
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly) rs1320569379
NM_004408.4(DNM1):c.54C>T (p.Asp18=) rs2131061036
NM_004408.4(DNM1):c.6C>T (p.Gly2=) rs1833612492
NM_004408.4(DNM1):c.81G>A (p.Ala27=) rs1268920821
NM_004408.4(DNM1):c.84C>T (p.Asp28=)
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu) rs1833619327

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