List of variants studied for Progressive myoclonic epilepsy type 3 by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)	rs387907260	0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)	rs368001837	0.00001
NM_153033.5(KCTD7):c.295C>T (p.Arg99Ter)	rs267607199
NM_153033.5(KCTD7):c.322C>A (p.Leu108Met)	rs387907263
NM_153033.5(KCTD7):c.343G>T (p.Asp115Tyr)	rs387907262
NM_153033.5(KCTD7):c.594del (p.Ile199fs)	rs727502785
NM_153033.5(KCTD7):c.818A>T (p.Asn273Ile)	rs387907261

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