ClinVar Miner

List of variants reported as likely pathogenic for Long QT syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1515-2_1515-1del rs1564886323
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.387-5T>A rs794728549
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter) rs2124988406

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