ClinVar Miner

List of variants reported as uncertain significance for Long QT syndrome 13; Familial hyperaldosteronism type III by Fulgent Genetics, Fulgent Genetics

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln) rs530587789 0.00005
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter) rs746985291 0.00005
NM_000890.5(KCNJ5):c.-285G>C rs886048006 0.00004
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp) rs778735978 0.00003
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg) rs745968243 0.00002
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys) rs781011854 0.00002
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile) rs749202931 0.00002
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys) rs777592481 0.00002
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala) rs766058202 0.00001
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met) rs185412918 0.00001
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp) rs757877367 0.00001
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys) rs781022847 0.00001
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn) rs752310426 0.00001
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile) rs771161358 0.00001
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp) rs746522890 0.00001
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) rs772877248 0.00001
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln) rs746240972 0.00001
NM_000890.5(KCNJ5):c.*936C>G rs77525858
NM_000890.5(KCNJ5):c.-289GA[18] rs71057905
NM_000890.5(KCNJ5):c.-289GA[19] rs71057905
NM_000890.5(KCNJ5):c.-291C>G rs10893931
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA rs886047999
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) rs930047035

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