ClinVar Miner

List of variants in gene combination DNM1, LOC113839516 reported as likely benign for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494 0.00066
NM_004408.4(DNM1):c.414C>T (p.Pro138=) rs141748215 0.00026
NM_004408.4(DNM1):c.235+8C>T rs370555560 0.00021
NM_004408.4(DNM1):c.386-19C>G rs772469890 0.00004
NM_004408.4(DNM1):c.589+10C>T rs987855255 0.00004
NM_004408.4(DNM1):c.589+15G>A rs535456711 0.00004
NM_004408.4(DNM1):c.387G>A (p.Val129=) rs758325864 0.00003
NM_004408.4(DNM1):c.162-17C>T rs1057524327 0.00002
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys) rs199575353 0.00001
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260 0.00001
NM_004408.4(DNM1):c.235+10C>T rs372579464 0.00001
NM_004408.4(DNM1):c.354G>A (p.Val118=) rs1357577359 0.00001
NM_004408.4(DNM1):c.386-17C>T rs766023182 0.00001
NM_004408.4(DNM1):c.528C>T (p.Pro176=) rs146242842 0.00001
NM_004408.4(DNM1):c.162-8C>T rs1205557529
NM_004408.4(DNM1):c.162-9T>G rs920593927
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.235+18C>T
NM_004408.4(DNM1):c.235+9C>T rs1834733486
NM_004408.4(DNM1):c.236-17G>T
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala) rs2131150312
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys) rs2131150438
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
NM_004408.4(DNM1):c.342C>T (p.Gly114=) rs553331150
NM_004408.4(DNM1):c.375C>T (p.Tyr125=) rs2131150705
NM_004408.4(DNM1):c.385+11T>C
NM_004408.4(DNM1):c.385+18G>A rs2131150824
NM_004408.4(DNM1):c.385+18G>C
NM_004408.4(DNM1):c.385+8C>T
NM_004408.4(DNM1):c.386-11G>T
NM_004408.4(DNM1):c.386-4C>G
NM_004408.4(DNM1):c.386-7T>C rs1588352214
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.435G>T (p.Val145=)
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
NM_004408.4(DNM1):c.471A>G (p.Arg157=) rs2131152882
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
NM_004408.4(DNM1):c.519C>T (p.Ala173=) rs2131152966
NM_004408.4(DNM1):c.589+14C>G
NM_004408.4(DNM1):c.589+19G>A
NM_004408.4(DNM1):c.589+8C>T rs1588352832

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