ClinVar Miner

List of variants studied for Brugada syndrome by Blueprint Genetics,

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000238.3(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3914G>A (p.Arg1305His) rs730880207
NM_000722.3(CACNA2D1):c.439C>T (p.Pro147Ser) rs869025369
NM_001099404.1(SCN5A):c.1598G>A (p.Arg533His) rs146848219
NM_001099404.1(SCN5A):c.4132G>A (p.Val1378Met) rs748312802
NM_001148.4(ANK2):c.10881T>G (p.His3627Gln) rs148405740
NM_001148.4(ANK2):c.11198_11200delGGG (p.Gly3733del) rs730880049
NM_003098.2(SNTA1):c.821G>A (p.Arg274Gln) rs137986136
NM_004980.4(KCND3):c.817G>A (p.Gly273Ser) rs869025444
NM_005477.2(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_014391.2(ANKRD1):c.612G>T (p.Leu204Phe) rs869025363
NM_017636.3(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.3(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.4477_4479delAAG (p.Lys1493del) rs869025522
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.784A>C (p.Ser262Arg) rs777689378

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