ClinVar Miner

List of variants studied for long QT syndrome 13 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=) rs113012271 0.00034
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=) rs147245544 0.00021
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) rs148307402 0.00009
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 0.00008
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.351C>T (p.Asp117=) rs765873474 0.00003
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=) rs140697732 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=) rs757895735 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.155G>A (p.Arg52His) rs144062083 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.408C>T (p.Phe136=) rs780052854 0.00001
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile) rs771161358 0.00001
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=) rs758377412 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.902T>A (p.Val301Asp) rs1462481036 0.00001
NM_000890.5(KCNJ5):c.906G>T (p.Val302=) rs533482437 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.1105G>T (p.Glu369Ter)
NM_000890.5(KCNJ5):c.1146C>G (p.Ser382Arg)
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
NM_000890.5(KCNJ5):c.1216C>A (p.Pro406Thr)
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) rs930047035
NM_000890.5(KCNJ5):c.1250G>A (p.Gly417Asp)
NM_000890.5(KCNJ5):c.1250G>T (p.Gly417Val)
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)
NM_000890.5(KCNJ5):c.199G>A (p.Val67Ile)
NM_000890.5(KCNJ5):c.352C>T (p.Leu118=)
NM_000890.5(KCNJ5):c.413C>G (p.Ser138Cys)
NM_000890.5(KCNJ5):c.469A>G (p.Ile157Val)
NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser)
NM_000890.5(KCNJ5):c.562G>C (p.Val188Leu)
NM_000890.5(KCNJ5):c.605T>C (p.Phe202Ser)
NM_000890.5(KCNJ5):c.609C>T (p.Ser203=)
NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu)
NM_000890.5(KCNJ5):c.629T>C (p.Met210Thr)
NM_000890.5(KCNJ5):c.62A>T (p.Asp21Val)
NM_000890.5(KCNJ5):c.632G>A (p.Arg211Gln)
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)
NM_000890.5(KCNJ5):c.74T>C (p.Ile25Thr)
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.82C>G (p.Gln28Glu)
NM_000890.5(KCNJ5):c.834T>A (p.His278Gln) rs7118833
NM_000890.5(KCNJ5):c.88C>T (p.Arg30Cys)
NM_000890.5(KCNJ5):c.91G>A (p.Asp31Asn)
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA rs2136003778
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) rs886048011
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)

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