ClinVar Miner

List of variants in gene DNM1 reported as pathogenic for Lennox-Gastaut syndrome

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620 0.00003
NM_004408.4(DNM1):c.1036G>A (p.Gly346Ser) rs1554774575
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala) rs587777862
NM_004408.4(DNM1):c.1090_1091insTTCCAC (p.Asn363_Arg364insLeuPro) rs1564332930
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter) rs2131175203
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.590-2A>G
NM_004408.4(DNM1):c.618G>C (p.Lys206Asn) rs587777861
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.767del (p.Arg256fs) rs2131158061
NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) rs1554774401

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