ClinVar Miner

List of variants studied for Progressive familial heart block

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_017636.4(TRPM4):c.1050+13_1050+16dup rs137898843 0.02485
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
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_017636.3(TRPM4):c.-107G>T rs112085495 0.00258
NM_000335.5(SCN5A):c.*1673C>T rs886058443 0.00024
NM_000335.5(SCN5A):c.*1969C>T rs190416544 0.00020
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.*945C>A rs886058450 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.*1731G>C rs569249327 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_017636.4(TRPM4):c.956_958del (p.Leu319_Ala320delinsPro) rs764918057 0.00001
NM_000335.5(SCN5A):c.*1443C>A rs886058445
NM_000335.5(SCN5A):c.*1602G>T rs886058444
NM_000335.5(SCN5A):c.*1691G>T rs886058442
NM_000335.5(SCN5A):c.*1701G>T rs886058441
NM_000335.5(SCN5A):c.*1705C>T rs886058440
NM_000335.5(SCN5A):c.*1744C>G rs886058439
NM_000335.5(SCN5A):c.*1836A>T rs886058438
NM_000335.5(SCN5A):c.*1943C>A rs569552176
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.*2149G>A rs114517792
NM_000335.5(SCN5A):c.*296G>A rs886058456
NM_000335.5(SCN5A):c.*516G>T rs886058454
NM_000335.5(SCN5A):c.*634C>A rs886058453
NM_000335.5(SCN5A):c.*6G>T rs776980213
NM_000335.5(SCN5A):c.*725C>A rs886058451
NM_000335.5(SCN5A):c.*73C>A rs886058458
NM_000335.5(SCN5A):c.*980C>A rs886058449
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile) rs886058463
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe) rs886058462
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn) rs746291609
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile) rs774432823
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu) rs886058459
NM_002152.3(HRC):c.743ATG[13] (p.Asp261del) rs61355957
NM_004415.4(DSP):c.5051A>G (p.His1684Arg) rs1135401735

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