List of variants reported for Developmental and epileptic encephalopathy, 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001130438.3(SPTAN1):c.2194-13T>G	rs28676915	0.00932
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=)	rs11543345	0.00816
NM_001130438.3(SPTAN1):c.3520-14C>G	rs142682344	0.00575
NM_001130438.3(SPTAN1):c.652-6G>A	rs115815276	0.00436
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=)	rs114745823	0.00429
NM_001130438.3(SPTAN1):c.931-16C>T	rs149289060	0.00285
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)	rs138609094	0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)	rs144787939	0.00217
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=)	rs140353002	0.00130
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)	rs143108250	0.00073
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)	rs143166100	0.00054
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)	rs141980692	0.00029
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=)	rs367772623	0.00027
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)	rs145870898	0.00024
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn)	rs367776636	0.00019
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn)	rs199720383	0.00014
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)	rs745697305	0.00010
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)	rs370304886	0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)	rs943636575	0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)	rs772995493	0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)	rs772367229	0.00001

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