ClinVar Miner

List of variants in gene combination KCTD7, LOC129998533 reported as likely benign for Progressive myoclonic epilepsy type 3

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
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.132G>A (p.Leu44=) rs1057523155 0.00003
NM_153033.5(KCTD7):c.144+19G>A rs998736066 0.00003
NM_153033.5(KCTD7):c.63T>C (p.Ser21=) rs756855275 0.00002
NM_153033.5(KCTD7):c.102G>A (p.Thr34=) rs769985127 0.00001
NM_153033.5(KCTD7):c.144+7G>A rs1786384989 0.00001
NM_153033.5(KCTD7):c.15G>C (p.Thr5=) rs1410806588 0.00001
NM_153033.5(KCTD7):c.81T>C (p.Phe27=) rs1007276581 0.00001
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=) rs1786384122
NM_153033.5(KCTD7):c.12C>G (p.Val4=) rs933610815
NM_153033.5(KCTD7):c.144+15G>A rs2535233316
NM_153033.5(KCTD7):c.144+18G>A rs2535233338
NM_153033.5(KCTD7):c.144+21_144+27dup rs1434023795
NM_153033.5(KCTD7):c.144+8G>A rs778676871
NM_153033.5(KCTD7):c.144+8GGCGGGC[3] rs1313339325
NM_153033.5(KCTD7):c.144+9del rs1320825927
NM_153033.5(KCTD7):c.51C>T (p.Ala17=) rs1584392789
NM_153033.5(KCTD7):c.60C>T (p.Ser20=)
NM_153033.5(KCTD7):c.69C>G (p.Ala23=) rs1584392832
NM_153033.5(KCTD7):c.82C>T (p.Leu28=) rs2116755532
NM_153033.5(KCTD7):c.99G>A (p.Pro33=)
NM_153033.5(KCTD7):c.9A>G (p.Val3=) rs2535232906

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