ClinVar Miner

List of variants in gene combination CARD14, LOC126862662, SGSH reported as uncertain significance for exanthem

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001366385.1(CARD14):c.2483G>A (p.Arg828Gln) rs147592804 0.00011
NM_001366385.1(CARD14):c.2422G>A (p.Glu808Lys) rs759612018 0.00006
NM_001366385.1(CARD14):c.2674G>C (p.Glu892Gln) rs770592418 0.00006
NM_001366385.1(CARD14):c.2569+2T>A rs746981190 0.00004
NM_001366385.1(CARD14):c.2399-3C>T rs376922603 0.00003
NM_001366385.1(CARD14):c.2468G>A (p.Arg823Gln) rs781479850 0.00002
NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg) rs529691290 0.00002
NM_001366385.1(CARD14):c.2641G>A (p.Gly881Arg) rs548495951 0.00002
NM_001366385.1(CARD14):c.2408C>T (p.Thr803Met) rs748305221 0.00001
NM_001366385.1(CARD14):c.2473G>A (p.Ala825Thr) rs538251591 0.00001
NM_001366385.1(CARD14):c.2489T>C (p.Val830Ala) rs772155622 0.00001
NM_001366385.1(CARD14):c.2517G>C (p.Lys839Asn) rs950950885 0.00001
NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys) rs768044758 0.00001
NM_001366385.1(CARD14):c.2570-1G>C rs768494068 0.00001
NM_001366385.1(CARD14):c.2579G>T (p.Ser860Ile) rs865872056 0.00001
NM_001366385.1(CARD14):c.2638T>C (p.Ser880Pro) rs754405150 0.00001
NM_001366385.1(CARD14):c.2645G>A (p.Gly882Asp) rs964442846 0.00001
NM_001366385.1(CARD14):c.2662C>T (p.Arg888Cys) rs201390554 0.00001
NM_001366385.1(CARD14):c.2684T>C (p.Met895Thr) rs773869052 0.00001
NM_001366385.1(CARD14):c.2408C>G (p.Thr803Arg)
NM_001366385.1(CARD14):c.2411G>A (p.Cys804Tyr)
NM_001366385.1(CARD14):c.2419G>A (p.Ala807Thr) rs2041211424
NM_001366385.1(CARD14):c.2432T>C (p.Leu811Pro) rs1350403084
NM_001366385.1(CARD14):c.2437C>G (p.Leu813Val) rs2041212594
NM_001366385.1(CARD14):c.2448T>A (p.Tyr816Ter)
NM_001366385.1(CARD14):c.2455G>A (p.Val819Met) rs1567903410
NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala)
NM_001366385.1(CARD14):c.2459G>A (p.Arg820Gln)
NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln) rs183322775
NM_001366385.1(CARD14):c.2481_2482delinsTT (p.Arg828Trp)
NM_001366385.1(CARD14):c.2482C>T (p.Arg828Trp)
NM_001366385.1(CARD14):c.2497G>A (p.Val833Met) rs1310418853
NM_001366385.1(CARD14):c.2503del (p.Arg835fs)
NM_001366385.1(CARD14):c.2533C>A (p.Leu845Met)
NM_001366385.1(CARD14):c.2536_2537del (p.Cys846fs)
NM_001366385.1(CARD14):c.2538C>A (p.Cys846Ter)
NM_001366385.1(CARD14):c.2538C>G (p.Cys846Trp)
NM_001366385.1(CARD14):c.2539C>T (p.Leu847Phe)
NM_001366385.1(CARD14):c.2540T>A (p.Leu847His)
NM_001366385.1(CARD14):c.2561G>A (p.Cys854Tyr) rs2144557503
NM_001366385.1(CARD14):c.2567C>T (p.Ala856Val)
NM_001366385.1(CARD14):c.2570-13A>G
NM_001366385.1(CARD14):c.2570-3T>C rs2144571219
NM_001366385.1(CARD14):c.2587G>A (p.Glu863Lys)
NM_001366385.1(CARD14):c.2591A>G (p.Tyr864Cys) rs1196800518
NM_001366385.1(CARD14):c.2599T>A (p.Trp867Arg) rs1204745306
NM_001366385.1(CARD14):c.2626G>A (p.Glu876Lys)
NM_001366385.1(CARD14):c.2626G>C (p.Glu876Gln) rs746358733
NM_001366385.1(CARD14):c.2630G>A (p.Gly877Glu)
NM_001366385.1(CARD14):c.2639C>T (p.Ser880Phe)
NM_001366385.1(CARD14):c.2645del (p.Gly882fs)
NM_001366385.1(CARD14):c.2663G>A (p.Arg888His)
NM_001366385.1(CARD14):c.2666A>G (p.His889Arg)
NM_001366385.1(CARD14):c.2671G>A (p.Val891Met)
NM_001366385.1(CARD14):c.2683A>G (p.Met895Val)
NM_001366385.1(CARD14):c.2690del (p.Lys897fs)
NM_001366385.1(CARD14):c.2691+4_2691+5dup

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