ClinVar Miner

List of variants reported as likely benign for Hyperekplexia

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004211.4(SLC6A5):c.-91A>G rs141562584 0.00816
NM_004211.5(SLC6A5):c.342C>G (p.Pro114=) rs61736605 0.00773
NM_004211.5(SLC6A5):c.*122C>T rs138102026 0.00669
NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg) rs12364685 0.00520
NM_004211.4(SLC6A5):c.-181A>G rs555196341 0.00307
NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His) rs75450512 0.00305
NM_004211.5(SLC6A5):c.2070C>T (p.Thr690=) rs144357826 0.00278
NM_004211.5(SLC6A5):c.*23G>T rs116313557 0.00175
NM_004211.5(SLC6A5):c.1548C>T (p.Ala516=) rs77029901 0.00150
NM_004211.4(SLC6A5):c.-279A>G rs113212012 0.00149
NM_004211.5(SLC6A5):c.1413C>T (p.Ala471=) rs146042684 0.00149
NM_004211.4(SLC6A5):c.-138G>A rs72544119 0.00135
NM_004211.5(SLC6A5):c.1169G>T (p.Gly390Val) rs140296233 0.00057
NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val) rs200496125 0.00056
NM_004211.4(SLC6A5):c.-239A>G rs2241939 0.00051
NM_004211.5(SLC6A5):c.150T>G (p.Arg50=) rs772388914 0.00025
NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=) rs147344601 0.00019
NM_004211.4(SLC6A5):c.*206G>T rs560008080 0.00010
NM_004211.5(SLC6A5):c.-41G>T rs200241720 0.00010
NM_004211.5(SLC6A5):c.2214T>A (p.His738Gln) rs376060015 0.00010
NM_004211.5(SLC6A5):c.356A>G (p.His119Arg) rs201319465 0.00006
NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=) rs148416271 0.00004
NM_004211.5(SLC6A5):c.*160C>T rs149535690 0.00003
NM_004211.5(SLC6A5):c.*161G>T rs567894237 0.00003
NM_000171.4(GLRA1):c.-14C>T rs747595543 0.00002
NM_004211.5(SLC6A5):c.2366A>G (p.Lys789Arg) rs543307278 0.00001
NM_000824.5(GLRB):c.*996del rs556022501
NM_000824.5(GLRB):c.1365CAA[1] (p.Asn456del) rs373895476
NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly) rs755131121
NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val) rs562578394
NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met) rs150764554
NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu) rs527326906

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