ClinVar Miner

List of variants in gene KCTD7, LOC129998533 studied for Progressive myoclonic epilepsy type 3

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.-44C>T rs35526611 0.51674
NM_153033.5(KCTD7):c.-69C>T rs536230559 0.00038
NM_153033.5(KCTD7):c.-155G>C rs886062408 0.00016
NM_153033.5(KCTD7):c.133C>T (p.Leu45=) rs587780370 0.00016
NM_153033.5(KCTD7):c.-49C>T rs374505432 0.00013
NM_153033.5(KCTD7):c.-90G>A rs1031117251 0.00011
NM_153033.5(KCTD7):c.-181T>G rs886062407 0.00010
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994 0.00007
NM_153033.5(KCTD7):c.-55C>T rs927832797 0.00004
NM_153033.5(KCTD7):c.-46C>G rs886062412 0.00003
NM_153033.5(KCTD7):c.-94C>T rs886062410 0.00003
NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr) rs766856368 0.00003
NM_153033.5(KCTD7):c.132G>A (p.Leu44=) rs1057523155 0.00003
NM_153033.5(KCTD7):c.107C>T (p.Thr36Met) rs773209854 0.00001
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro) rs766856368 0.00001
NM_153033.5(KCTD7):c.141G>C (p.Gln47His) rs753563583 0.00001
NM_153033.5(KCTD7):c.144+19G>A rs998736066 0.00001
NM_153033.5(KCTD7):c.144+4C>G rs757018925 0.00001
NM_153033.5(KCTD7):c.15G>C (p.Thr5=) rs1410806588 0.00001
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys) rs1308286439 0.00001
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro) rs763423181 0.00001
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala) rs753471689 0.00001
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val) rs745360140 0.00001
NM_153033.5(KCTD7):c.81T>C (p.Phe27=) rs1007276581 0.00001
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu) rs890695139 0.00001
NM_153033.5(KCTD7):c.-116C>T rs551906037
NM_153033.5(KCTD7):c.-145C>G rs886062409
NM_153033.5(KCTD7):c.-170G>T rs191169882
NM_153033.5(KCTD7):c.-87A>C rs886062411
NM_153033.5(KCTD7):c.102G>A (p.Thr34=)
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del) rs778647590
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)
NM_153033.5(KCTD7):c.111G>A (p.Gln37=) rs1786383344
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val) rs373655601
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.128C>T (p.Pro43Leu)
NM_153033.5(KCTD7):c.129C>T (p.Pro43=)
NM_153033.5(KCTD7):c.12C>G (p.Val4=)
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter) rs2116755694
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)
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+3A>G rs1584392905
NM_153033.5(KCTD7):c.144+4C>A rs757018925
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.144G>A (p.Glu48=) rs2116755708
NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg) rs1346070646
NM_153033.5(KCTD7):c.18G>C (p.Gly6=) rs886062413
NM_153033.5(KCTD7):c.26C>T (p.Pro9Leu)
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu) rs763423181
NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu) rs751937729
NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser) rs1450028260
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys) rs1450028260
NM_153033.5(KCTD7):c.51C>T (p.Ala17=) rs1584392789
NM_153033.5(KCTD7):c.53T>A (p.Met18Lys) rs777578179
NM_153033.5(KCTD7):c.60C>T (p.Ser20=)
NM_153033.5(KCTD7):c.63T>C (p.Ser21=) rs756855275
NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn) rs1390049689
NM_153033.5(KCTD7):c.69C>G (p.Ala23=) rs1584392832
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly) rs2116755505
NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)
NM_153033.5(KCTD7):c.82C>T (p.Leu28=) rs2116755532
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del) rs753399965
NM_153033.5(KCTD7):c.99G>A (p.Pro33=)
NM_153033.5(KCTD7):c.9A>G (p.Val3=)

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