ClinVar Miner

List of variants studied for Brugada syndrome 1 by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile) rs782547342 0.00001
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.75637G>T (p.Val25213Phe) rs72646901
NM_003239.5(TGFB3):c.782G>A (p.Arg261His) rs547264290

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