ClinVar Miner

List of variants in gene DNM1, LOC113839516 studied for electroclinical syndrome

Included ClinVar conditions (101):
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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_004408.4(DNM1):c.312G>A (p.Glu104=) rs2229917 0.11354
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628 0.00468
NM_004408.4(DNM1):c.386-14G>A rs141695422 0.00189
NM_004408.4(DNM1):c.450C>G (p.Pro150=) rs143834670 0.00093
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.261G>A (p.Lys87=) rs377178808 0.00002
NM_004408.4(DNM1):c.293G>A (p.Arg98His) rs748195071 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.267G>T (p.Lys89Asn) rs1229779896 0.00001
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly) rs1206732749 0.00001
NM_004408.4(DNM1):c.354G>A (p.Val118=) rs1357577359 0.00001
NM_004408.4(DNM1):c.358A>G (p.Ile120Val) rs1057520197 0.00001
NM_004408.4(DNM1):c.384C>T (p.His128=) rs535527521 0.00001
NM_004408.4(DNM1):c.386-17C>T rs766023182 0.00001
NM_004408.4(DNM1):c.386-8C>T rs764950748 0.00001
NM_004408.4(DNM1):c.474C>T (p.Asp158=) rs568247101 0.00001
NM_004408.4(DNM1):c.528C>T (p.Pro176=) rs146242842 0.00001
NM_004408.4(DNM1):c.543G>A (p.Leu181=) rs759118746 0.00001
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu) rs780514615 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.176G>A (p.Arg59Gln)
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile) rs2131148741
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
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.236-2A>C
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.265A>G (p.Lys89Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
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.350C>T (p.Pro117Leu) rs776104715
NM_004408.4(DNM1):c.352G>A (p.Val118Met) rs1834758362
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
NM_004408.4(DNM1):c.375C>T (p.Tyr125=) rs2131150705
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
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.395T>G (p.Leu132Arg)
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.416G>A (p.Gly139Glu) rs1554772913
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
NM_004408.4(DNM1):c.427G>C (p.Val143Leu) rs1834788549
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004408.4(DNM1):c.435G>T (p.Val145=)
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys) rs1554772974
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet) rs1057518655
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln) rs2131152872
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.529G>C (p.Ala177Pro) rs587777860
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr) rs1834792032
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
NM_004408.4(DNM1):c.588G>A (p.Gln196=) rs1834794265
NM_004408.4(DNM1):c.589+14C>G
NM_004408.4(DNM1):c.589+19G>A
NM_004408.4(DNM1):c.589+4G>A
NM_004408.4(DNM1):c.589+4G>T rs751407306
NM_004408.4(DNM1):c.589+8C>T rs1588352832
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)

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