ClinVar Miner

List of variants reported as likely benign for Progressive myoclonic epilepsy type 3

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ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.*3612G>A rs35633983 0.00306
NM_153033.5(KCTD7):c.*1619A>G rs115778754 0.00220
NM_153033.4(KCTD7):c.*3991G>C rs147205609 0.00168
NM_153033.5(KCTD7):c.*1839T>C rs137946765 0.00052
NM_153033.5(KCTD7):c.*221G>T rs151151235 0.00037
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_153033.5(KCTD7):c.507G>C (p.Arg169=) rs142379946 0.00031
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_153033.5(KCTD7):c.*2137T>C rs138958447 0.00017
NM_153033.5(KCTD7):c.133C>T (p.Leu45=) rs587780370 0.00016
NM_153033.5(KCTD7):c.168C>T (p.Asn56=) rs371824397 0.00014
NM_153033.5(KCTD7):c.192A>G (p.Thr64=) rs142526573 0.00014
NM_153033.5(KCTD7):c.-49C>T rs374505432 0.00013
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_153033.5(KCTD7):c.145-15G>T rs749343374 0.00008
NM_153033.5(KCTD7):c.411C>T (p.Leu137=) rs374072904 0.00008
NM_153033.5(KCTD7):c.216C>T (p.Tyr72=) rs745910052 0.00006
NM_153033.5(KCTD7):c.493+7G>T rs1482884248 0.00006
NM_153033.5(KCTD7):c.315-10T>C rs370881492 0.00004
NM_153033.5(KCTD7):c.132G>A (p.Leu44=) rs1057523155 0.00003
NM_153033.5(KCTD7):c.171C>T (p.Ile57=) rs376524066 0.00003
NM_153033.5(KCTD7):c.519C>T (p.Ile173=) rs866499042 0.00003
NM_153033.5(KCTD7):c.145-4C>T rs368755155 0.00002
NM_153033.5(KCTD7):c.195C>T (p.Arg65=) rs755849045 0.00002
NM_153033.5(KCTD7):c.369A>C (p.Arg123=) rs753658170 0.00002
NM_153033.5(KCTD7):c.439C>T (p.Leu147=) rs574847246 0.00002
NM_153033.5(KCTD7):c.493+14G>C rs886645555 0.00002
NM_153033.5(KCTD7):c.494-11C>T rs746601430 0.00002
NM_153033.5(KCTD7):c.494-14G>A rs1198171302 0.00002
NM_153033.5(KCTD7):c.534G>A (p.Ala178=) rs773060529 0.00002
NM_153033.5(KCTD7):c.594C>T (p.Pro198=) rs749192199 0.00002
NM_153033.5(KCTD7):c.723T>G (p.Val241=) rs771832195 0.00002
NM_153033.5(KCTD7):c.144+19G>A rs998736066 0.00001
NM_153033.5(KCTD7):c.15G>C (p.Thr5=) rs1410806588 0.00001
NM_153033.5(KCTD7):c.258C>T (p.Tyr86=) rs749010969 0.00001
NM_153033.5(KCTD7):c.264C>T (p.Pro88=) rs985251877 0.00001
NM_153033.5(KCTD7):c.342G>A (p.Gly114=) rs145152329 0.00001
NM_153033.5(KCTD7):c.402C>T (p.Ile134=) rs754958440 0.00001
NM_153033.5(KCTD7):c.447C>T (p.Gly149=) rs767984903 0.00001
NM_153033.5(KCTD7):c.750G>A (p.Thr250=) rs374256335 0.00001
NM_153033.5(KCTD7):c.774C>T (p.Thr258=) rs751953589 0.00001
NM_153033.5(KCTD7):c.792C>T (p.Ile264=) rs368680616 0.00001
NM_153033.5(KCTD7):c.813C>T (p.Leu271=) rs766332054 0.00001
NM_153033.5(KCTD7):c.81T>C (p.Phe27=) rs1007276581 0.00001
NM_153033.5(KCTD7):c.861A>G (p.Thr287=) rs367591875 0.00001
NC_000007.13:g.(?_66103220)_(66104219_?)dup
NC_000007.13:g.(?_66103220)_(66105401_?)dup
NC_000007.13:g.(?_66103230)_(66104219_?)dup
NM_153033.4:c.315-?_*3997+?dup
NM_153033.5(KCTD7):c.102G>A (p.Thr34=)
NM_153033.5(KCTD7):c.111G>A (p.Gln37=) rs1786383344
NM_153033.5(KCTD7):c.117G>A (p.Gly39=) rs2116755633
NM_153033.5(KCTD7):c.123G>T (p.Ala41=) rs2116755653
NM_153033.5(KCTD7):c.129C>T (p.Pro43=)
NM_153033.5(KCTD7):c.12C>G (p.Val4=)
NM_153033.5(KCTD7):c.144+15G>A
NM_153033.5(KCTD7):c.144+18G>A
NM_153033.5(KCTD7):c.144+21_144+27dup
NM_153033.5(KCTD7):c.144+7G>A
NM_153033.5(KCTD7):c.144+8G>A
NM_153033.5(KCTD7):c.144+8GGCGGGC[3]
NM_153033.5(KCTD7):c.144+9del rs1320825927
NM_153033.5(KCTD7):c.145-17T>A rs2116763618
NM_153033.5(KCTD7):c.145-19C>G
NM_153033.5(KCTD7):c.145-19C>T
NM_153033.5(KCTD7):c.145-5del
NM_153033.5(KCTD7):c.145-6T>C
NM_153033.5(KCTD7):c.162C>A (p.Pro54=)
NM_153033.5(KCTD7):c.165T>C (p.Leu55=)
NM_153033.5(KCTD7):c.177G>T (p.Gly59=)
NM_153033.5(KCTD7):c.204A>C (p.Thr68=) rs777859099
NM_153033.5(KCTD7):c.205C>T (p.Leu69=)
NM_153033.5(KCTD7):c.252G>A (p.Arg84=)
NM_153033.5(KCTD7):c.270C>T (p.Asp90=) rs746002015
NM_153033.5(KCTD7):c.279C>T (p.Gly93=)
NM_153033.5(KCTD7):c.285C>T (p.Tyr95=) rs1584395905
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153033.5(KCTD7):c.295C>A (p.Arg99=)
NM_153033.5(KCTD7):c.314+13C>T rs1786503027
NM_153033.5(KCTD7):c.314+18C>G
NM_153033.5(KCTD7):c.314+19A>C
NM_153033.5(KCTD7):c.314+20A>G
NM_153033.5(KCTD7):c.314+9C>T
NM_153033.5(KCTD7):c.315-15T>C
NM_153033.5(KCTD7):c.315-16T>C
NM_153033.5(KCTD7):c.315-17C>T
NM_153033.5(KCTD7):c.315-32_315-17del rs758037249
NM_153033.5(KCTD7):c.315-4T>A
NM_153033.5(KCTD7):c.315-4T>C rs932417352
NM_153033.5(KCTD7):c.315-5C>G
NM_153033.5(KCTD7):c.315-8C>G
NM_153033.5(KCTD7):c.315-9C>T rs746772828
NM_153033.5(KCTD7):c.321G>C (p.Val107=)
NM_153033.5(KCTD7):c.330C>T (p.Phe110=)
NM_153033.5(KCTD7):c.339A>G (p.Ser113=)
NM_153033.5(KCTD7):c.339A>T (p.Ser113=)
NM_153033.5(KCTD7):c.345C>T (p.Asp115=)
NM_153033.5(KCTD7):c.351A>G (p.Pro117=)
NM_153033.5(KCTD7):c.363T>C (p.Arg121=)
NM_153033.5(KCTD7):c.393C>T (p.Tyr131=) rs2116773941
NM_153033.5(KCTD7):c.402C>A (p.Ile134=)
NM_153033.5(KCTD7):c.405G>C (p.Gly135=) rs555039386
NM_153033.5(KCTD7):c.414G>A (p.Leu138=) rs1786634017
NM_153033.5(KCTD7):c.417G>A (p.Glu139=) rs1554300872
NM_153033.5(KCTD7):c.465G>A (p.Ala155=) rs773209661
NM_153033.5(KCTD7):c.489C>T (p.Tyr163=) rs1057521582
NM_153033.5(KCTD7):c.493+16C>T
NM_153033.5(KCTD7):c.494-19G>A
NM_153033.5(KCTD7):c.494-5T>C rs2116774978
NM_153033.5(KCTD7):c.494-7C>T rs768234025
NM_153033.5(KCTD7):c.51C>T (p.Ala17=) rs1584392789
NM_153033.5(KCTD7):c.528G>C (p.Leu176=)
NM_153033.5(KCTD7):c.549C>G (p.Ala183=) rs1786648622
NM_153033.5(KCTD7):c.564C>G (p.Leu188=)
NM_153033.5(KCTD7):c.594C>G (p.Pro198=) rs749192199
NM_153033.5(KCTD7):c.60C>T (p.Ser20=)
NM_153033.5(KCTD7):c.612T>C (p.Cys204=)
NM_153033.5(KCTD7):c.618C>G (p.Leu206=)
NM_153033.5(KCTD7):c.639G>A (p.Glu213=)
NM_153033.5(KCTD7):c.63T>C (p.Ser21=) rs756855275
NM_153033.5(KCTD7):c.642G>C (p.Arg214=)
NM_153033.5(KCTD7):c.699G>A (p.Gly233=)
NM_153033.5(KCTD7):c.69C>G (p.Ala23=) rs1584392832
NM_153033.5(KCTD7):c.714G>A (p.Val238=)
NM_153033.5(KCTD7):c.730C>T (p.Leu244=) rs1241868814
NM_153033.5(KCTD7):c.735G>T (p.Leu245=)
NM_153033.5(KCTD7):c.750G>C (p.Thr250=) rs374256335
NM_153033.5(KCTD7):c.759G>A (p.Ser253=) rs146540578
NM_153033.5(KCTD7):c.759G>T (p.Ser253=)
NM_153033.5(KCTD7):c.786G>A (p.Gln262=) rs1584399843
NM_153033.5(KCTD7):c.810C>T (p.His270=) rs2116775769
NM_153033.5(KCTD7):c.82C>T (p.Leu28=) rs2116755532
NM_153033.5(KCTD7):c.834G>A (p.Lys278=) rs746774522
NM_153033.5(KCTD7):c.99G>A (p.Pro33=)
NM_153033.5(KCTD7):c.9A>G (p.Val3=)

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