ClinVar Miner

List of variants studied for cardiac rhythm disease by New York Genome Center

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00018
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_001035.3(RYR2):c.8437-1390C>T rs1402357546 0.00006
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_002476.2(MYL4):c.194G>A (p.Arg65Gln) rs1050214578 0.00002
NM_153485.3(NUP155):c.1348A>G (p.Met450Val) rs374935918 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)
NM_001035.3(RYR2):c.12279C>G (p.Asp4093Glu)
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.4597-4T>A rs1676557876
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_002234.4(KCNA5):c.10G>T (p.Ala4Ser)
NM_006393.3(NEBL):c.1228-1338del rs1841465820

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