ClinVar Miner

List of variants studied for Brugada syndrome 1 by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000335.5(SCN5A):c.3388-7T>C rs41310769 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000335.5(SCN5A):c.4401C>T (p.Val1467=) rs766197312 0.00006
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=) rs375989197 0.00004
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr) rs764195092 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile) rs1284557438 0.00001
NM_000335.5(SCN5A):c.1047C>G (p.Asp349Glu)
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp) rs199473578
NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys) rs878911306
NM_000335.5(SCN5A):c.2318C>G (p.Pro773Arg) rs2061687716
NM_000335.5(SCN5A):c.3387+8A>C rs2125867452
NM_000335.5(SCN5A):c.3388A>C (p.Thr1130Pro) rs371469522
NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu) rs756102773
NM_000335.5(SCN5A):c.3821A>G (p.Asp1274Gly) rs2125849528
NM_000335.5(SCN5A):c.3898del (p.Ser1300fs) rs2061270021
NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser) rs1403211358
NM_000335.5(SCN5A):c.392+3A>G rs2062503289
NM_000335.5(SCN5A):c.4296+9C>A rs572950088
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4810+4G>A rs1011460663
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.483-1G>A rs794728846
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe) rs199473309
NM_000335.5(SCN5A):c.935-3C>G rs766127222

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