ClinVar Miner

List of variants reported as likely benign for Brugada syndrome 1 by Roden Lab, Vanderbilt University Medical Center

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00047
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000335.5(SCN5A):c.4167C>T (p.Thr1389=) rs747356664 0.00012
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000335.5(SCN5A):c.2151G>A (p.Pro717=) rs191840835 0.00011
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000335.5(SCN5A):c.1575C>T (p.Ser525=) rs370684004 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=) rs749069817 0.00003
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00003
NM_000335.5(SCN5A):c.1821C>T (p.Gly607=) rs753835985 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=) rs764026969 0.00001
NM_000335.5(SCN5A):c.1491T>G (p.Ser497=) rs761505485 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.2181C>T (p.Ile727=) rs186942072 0.00001
NM_000335.5(SCN5A):c.2437-7T>C rs1012068196 0.00001
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00001
NM_000335.5(SCN5A):c.3509-3T>C rs924305428 0.00001
NM_000335.5(SCN5A):c.3663+4C>G rs539737269 0.00001
NM_000335.5(SCN5A):c.3738A>G (p.Thr1246=) rs1450547019 0.00001
NM_000335.5(SCN5A):c.4005C>T (p.Asn1335=) rs746892102 0.00001
NM_000335.5(SCN5A):c.4243-4C>T rs772447988 0.00001
NM_000335.5(SCN5A):c.1338+3G>A rs1553704675
NM_000335.5(SCN5A):c.2520G>T (p.Gly840=) rs565515932
NM_000335.5(SCN5A):c.393-5C>T rs368678204

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