ClinVar Miner

List of variants in gene TTN reported as uncertain significance by Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00007
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln) rs750056949 0.00006
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) rs747907234 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.89753T>C (p.Val29918Ala) rs768749427 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001267550.2(TTN):c.78508G>A (p.Gly26170Ser) rs781248790 0.00002
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile) rs763323132 0.00001
NM_001267550.2(TTN):c.22868G>A (p.Gly7623Glu) rs752804619 0.00001
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala) rs1215190215 0.00001
NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn) rs1251147363 0.00001
NM_001267550.2(TTN):c.75923C>T (p.Pro25308Leu) rs776006935 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.89590A>G (p.Lys29864Glu) rs770839822 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.41038G>A (p.Ala13680Thr) rs1576748259
NM_001267550.2(TTN):c.43631T>C (p.Met14544Thr) rs1576685386
NM_001267550.2(TTN):c.51260G>A (p.Arg17087Lys) rs1576402466
NM_001267550.2(TTN):c.51352T>C (p.Phe17118Leu) rs1161061741
NM_001267550.2(TTN):c.52254G>C (p.Trp17418Cys) rs536554790
NM_001267550.2(TTN):c.57399A>C (p.Leu19133Phe) rs1576219060
NM_001267550.2(TTN):c.58160C>G (p.Thr19387Arg) rs771653779
NM_001267550.2(TTN):c.75637G>T (p.Val25213Phe) rs72646901
NM_001267550.2(TTN):c.7954T>C (p.Trp2652Arg) rs1574584723
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_001267550.2(TTN):c.88334A>C (p.Glu29445Ala) rs1575553884
NM_001267550.2(TTN):c.92099T>C (p.Phe30700Ser) rs746552047
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026

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