ClinVar Miner

List of variants in gene combination LOC126806428, TTN reported by GeneDx

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001267550.2(TTN):c.20837-106C>A rs2562852 0.02489
NM_001267550.2(TTN):c.20837-216del rs142628919 0.02133
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01586
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00893
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00335
NM_001267550.2(TTN):c.21116-38T>G rs72648963 0.00275
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00038
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.21404-8C>G rs761542135 0.00010
NM_001267550.2(TTN):c.20837-6T>C rs761982704 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.21036G>T (p.Arg7012Ser) rs1024577519 0.00007
NM_001267550.2(TTN):c.20837-12G>A rs534822724 0.00006
NM_001267550.2(TTN):c.20924C>T (p.Pro6975Leu) rs374493881 0.00006
NM_001267550.2(TTN):c.20842G>A (p.Ala6948Thr) rs147210608 0.00004
NM_001267550.2(TTN):c.20874G>A (p.Thr6958=) rs765956215 0.00003
NM_001267550.2(TTN):c.21013T>C (p.Leu7005=) rs774841915 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.21050C>T (p.Thr7017Ile) rs893338987 0.00002
NM_001267550.2(TTN):c.21363C>T (p.Val7121=) rs751090506 0.00002
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20892G>A (p.Thr6964=) rs727504623 0.00001
NM_001267550.2(TTN):c.20996A>G (p.Tyr6999Cys) rs1343770232 0.00001
NM_001267550.2(TTN):c.21279A>G (p.Thr7093=) rs727504765 0.00001
NM_001267550.2(TTN):c.21403+2T>G rs2078872337 0.00001
NM_001267550.2(TTN):c.20837-216_20837-215del rs200817020
NM_001267550.2(TTN):c.20880T>C (p.Thr6960=) rs1466462241
NM_001267550.2(TTN):c.20890A>C (p.Thr6964Pro) rs2154303645
NM_001267550.2(TTN):c.20905T>C (p.Cys6969Arg) rs368762020
NM_001267550.2(TTN):c.20928A>T (p.Glu6976Asp)
NM_001267550.2(TTN):c.20964G>A (p.Leu6988=) rs1553914054
NM_001267550.2(TTN):c.20985dup (p.Phe6996fs)
NM_001267550.2(TTN):c.20999A>G (p.Asn7000Ser) rs764035021
NM_001267550.2(TTN):c.21162T>G (p.Gly7054=) rs1553913456
NM_001267550.2(TTN):c.21296G>A (p.Cys7099Tyr) rs2078895939
NM_001267550.2(TTN):c.21307T>A (p.Leu7103Met) rs1235519093
NM_001267550.2(TTN):c.21326C>T (p.Ser7109Leu)
NM_001267550.2(TTN):c.21367G>A (p.Gly7123Arg)
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.21389T>C (p.Val7130Ala) rs1343571131
NM_001267550.2(TTN):c.21403+12G>C rs1578050068

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