ClinVar Miner

List of variants reported as uncertain significance for Long QT syndrome by Medical Research Institute, Tokyo Medical and Dental University

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001252102.2(KIF21B):c.2224G>A (p.Glu742Lys) rs750865418 0.00006
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp) rs776550479 0.00003
NM_001035.3(RYR2):c.8470C>T (p.Arg2824Trp) rs796052204 0.00002
NM_001206999.2(CIT):c.5783C>T (p.Ala1928Val) rs776383369 0.00001
NM_001379403.1(WDR26):c.359G>A (p.Gly120Glu) rs796052210 0.00001
NM_015902.6(UBR5):c.2965C>T (p.Arg989Trp) rs754562275 0.00001
NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys) rs201886868 0.00001
NM_020765.3(UBR4):c.6397G>A (p.Ala2133Thr) rs539999527 0.00001
NM_001035.3(RYR2):c.11017C>T (p.Arg3673Trp) rs796052205
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12438G>C (p.Glu4146Asp) rs796052206
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13780A>C (p.Lys4594Gln) rs796052207
NM_001035.3(RYR2):c.497C>G (p.Ser166Cys) rs796052203
NM_001206999.2(CIT):c.5786C>A (p.Ser1929Tyr) rs796052161
NM_001252102.2(KIF21B):c.3601C>T (p.Arg1201Trp) rs796052152
NM_001282426.2(PIK3CG):c.574G>A (p.Asp192Asn) rs796052174
NM_001379403.1(WDR26):c.912G>T (p.Leu304Phe) rs796052140
NM_014697.3(NOS1AP):c.1276G>A (p.Val426Met) rs796052201
NM_014697.3(NOS1AP):c.824C>T (p.Ser275Phe) rs796052202
NM_014989.7(RIMS1):c.1477G>C (p.Glu493Gln) rs796052194
NM_015902.5(UBR5):c.[3752G>A];[5837A>G]
NM_020765.3(UBR4):c.1097A>G (p.Lys366Arg) rs796052208
NM_020765.3(UBR4):c.1349G>T (p.Arg450Leu) rs757121959
NM_020765.3(UBR4):c.1557G>C (p.Gln519His) rs796052209
NM_058004.4(PI4KA):c.421G>A (p.Asp141Asn) rs796052191
NM_058004.4(PI4KA):c.912C>G (p.Ile304Met) rs764985938

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