ClinVar Miner

List of variants in gene combination CAV3, OXTR reported as benign for Long QT syndrome

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_033337.3(CAV3):c.402G>C (p.Ala134=) rs559206877

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