List of variants reported as pathogenic for Progressive myoclonic epilepsy type 3 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)	rs201296399	0.00005
NM_153033.5(KCTD7):c.456G>A (p.Val152=)	rs796052686	0.00001
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)	rs387907246	0.00001
NM_153033.5(KCTD7):c.827A>G (p.Tyr276Cys)	rs141191660	0.00001
NC_000007.13:g.(?_66068499)_(66098288_?)del
NC_000007.13:g.(?_66094052)_(66104219_?)del
NC_000007.13:g.(?_66103220)_(66104219_?)del
NC_000007.14:g.(?_66629045)_(66640414_?)del
NC_000007.14:g.(?_66638233)_(66639252_?)del
NM_153033.5(KCTD7):c.130dup (p.Leu44fs)
NM_153033.5(KCTD7):c.139C>T (p.Gln47Ter)	rs2116755694
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)	rs267607199
NM_153033.5(KCTD7):c.331del (p.Leu111fs)	rs1786631768
NM_153033.5(KCTD7):c.339_340del (p.Asp115fs)	rs2116773782
NM_153033.5(KCTD7):c.367C>T (p.Arg123Ter)
NM_153033.5(KCTD7):c.388C>T (p.Gln130Ter)	rs1207922864
NM_153033.5(KCTD7):c.514G>T (p.Glu172Ter)
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)	rs750811871

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