ClinVar Miner

List of variants reported as uncertain significance for cardiac rhythm disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (118):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser) rs144870368 0.00147
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_006073.4(TRDN):c.239C>T (p.Ser80Phe) rs181287533 0.00015
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu) rs150794709 0.00012
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu) rs201899630 0.00009
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_006073.4(TRDN):c.797A>G (p.Gln266Arg) rs200068375 0.00006
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn) rs199473157 0.00001
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu) rs1298498462 0.00001
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val) rs776925980 0.00001
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr) rs368635274 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_000218.3(KCNQ1):c.387-6394G>C
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.1794T>C (p.Asn598=) rs2061958215
NM_000335.5(SCN5A):c.3530G>C (p.Cys1177Ser) rs1169229420
NM_000335.5(SCN5A):c.3564G>A (p.Lys1188=) rs1375890695
NM_000335.5(SCN5A):c.3877G>A (p.Ala1293Thr)
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.5372A>T (p.Asp1791Val) rs774917987
NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg) rs1681095773
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.9165T>G (p.Ser3055Arg)
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_004588.5(SCN2B):c.145C>T (p.Pro49Ser)
NM_006073.4(TRDN):c.1084A>G (p.Thr362Ala)
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340

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