ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 36 by Fulgent Genetics, Fulgent Genetics

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala) rs746099604 0.00009
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala) rs750856311 0.00008
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His) rs1195010293 0.00005
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187 0.00003
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893 0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His) rs750005344 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr) rs778099828 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala) rs887315764
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del) rs746614953
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer) rs964823190
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661

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