List of variants studied for Developmental and epileptic encephalopathy, 77 by Genome-Nilou Lab

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004204.5(PIGQ):c.639C>T (p.Cys213=)	rs4984669	0.45828
NM_004204.5(PIGQ):c.943-77A>G	rs3752568	0.45471
NM_004204.5(PIGQ):c.1416+142T>G	rs2071982	0.45406
NM_004204.5(PIGQ):c.1416+104C>T	rs7192508	0.45399
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	rs2071979	0.45338
NM_004204.5(PIGQ):c.-9-1501A>G	rs12917944	0.44962
NM_004204.5(PIGQ):c.1532-133G>A	rs916415	0.44955
NM_004204.5(PIGQ):c.1532-68G>C	rs4984897	0.44949
NM_004204.5(PIGQ):c.1532-50T>A	rs916416	0.44947
NM_004204.5(PIGQ):c.1532-23T>C	rs4006748	0.44936
NM_004204.5(PIGQ):c.1532-15T>C	rs62030874	0.44935
NM_004204.5(PIGQ):c.1532-17del	rs67976359	0.44933
NM_004204.5(PIGQ):c.1336-94C>T	rs7191939	0.44713
NM_004204.5(PIGQ):c.1532-110C>T	rs4262946	0.37630
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)	rs7187227	0.16607
NM_004204.5(PIGQ):c.1224-63C>T	rs59476302
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)	rs1045274
NM_004204.5(PIGQ):c.942+92A>C	rs2071980

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