ClinVar Miner

List of variants studied for long QT syndrome 3 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000335.5(SCN5A):c.880G>A (p.Val294Met) rs199473086 0.00004
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His) rs879035421 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.2078G>T (p.Arg693Leu) rs373087176
NM_000335.5(SCN5A):c.2437-7T>C rs1012068196
NM_000335.5(SCN5A):c.2643G>T (p.Met881Ile) rs1559756973
NM_000335.5(SCN5A):c.3304T>G (p.Ser1102Ala) rs1575757097
NM_000335.5(SCN5A):c.4390T>C (p.Phe1464Leu) rs1559728884
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys) rs199473259
NM_000335.5(SCN5A):c.4502G>A (p.Gly1501Asp) rs1230010586
NM_000335.5(SCN5A):c.4598T>G (p.Ile1533Ser) rs1575712112
NM_000335.5(SCN5A):c.4787T>C (p.Val1596Ala)
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu) rs137854600
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro) rs199473315

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