ClinVar Miner

List of variants reported as uncertain significance for long QT syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu) rs149678604 0.00068
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile) rs149292242 0.00007
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 0.00002
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr) rs794728939 0.00001
NM_000218.3(KCNQ1):c.1694A>C (p.Gln565Pro) rs1846716972
NM_000218.3(KCNQ1):c.173C>A (p.Ala58Asp)
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val) rs199473031
NM_000719.7(CACNA1C):c.1381C>T (p.Pro461Ser)
NM_000719.7(CACNA1C):c.2365G>C (p.Glu789Gln)
NM_000719.7(CACNA1C):c.3926C>G (p.Thr1309Ser) rs2094568640
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu)
NM_000891.3(KCNJ2):c.299G>A (p.Gly100Asp)
NM_001148.6(ANK2):c.6598G>A (p.Gly2200Ser)

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