ClinVar Miner

List of variants reported as likely benign for progressive familial heart block, type 1A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493

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