ClinVar Miner

List of variants in gene combination LOC126806423, TTN studied for not provided

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67637-17T>C rs2288571 0.24363
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.68211G>A (p.Ala22737=) rs536824562 0.00011
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys) rs371105318 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.67637-4A>G rs376053678 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.68272G>A (p.Asp22758Asn) rs397517675 0.00003
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.68228T>G (p.Val22743Gly) rs377290384 0.00002
NM_001267550.2(TTN):c.67522T>A (p.Tyr22508Asn) rs763377678 0.00001
NM_001267550.2(TTN):c.67569G>A (p.Val22523=) rs376719475 0.00001
NM_001267550.2(TTN):c.67750T>G (p.Trp22584Gly) rs762387858 0.00001
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn) rs757888367 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr) rs767279296 0.00001
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) rs397517673 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68196G>A (p.Ser22732=) rs397517674 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68300C>T (p.Pro22767Leu) rs775953148 0.00001
NM_001267550.2(TTN):c.67451T>C (p.Ile22484Thr)
NM_001267550.2(TTN):c.67499T>G (p.Val22500Gly) rs760079543
NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter) rs1559490694
NM_001267550.2(TTN):c.67541C>G (p.Thr22514Ser)
NM_001267550.2(TTN):c.67543G>T (p.Glu22515Ter)
NM_001267550.2(TTN):c.67565G>C (p.Arg22522Thr) rs1221271318
NM_001267550.2(TTN):c.67574C>T (p.Ala22525Val) rs781320550
NM_001267550.2(TTN):c.67587T>C (p.Asn22529=) rs1057523544
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67620G>A (p.Val22540=)
NM_001267550.2(TTN):c.67648C>T (p.Leu22550Phe)
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg) rs769525101
NM_001267550.2(TTN):c.67667del (p.Pro22556fs) rs2154175408
NM_001267550.2(TTN):c.67716C>G (p.Ile22572Met) rs754283751
NM_001267550.2(TTN):c.67726G>A (p.Gly22576Ser)
NM_001267550.2(TTN):c.67740A>G (p.Pro22580=)
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
NM_001267550.2(TTN):c.67787G>C (p.Arg22596Thr) rs1197078573
NM_001267550.2(TTN):c.67820C>T (p.Thr22607Ile)
NM_001267550.2(TTN):c.67845A>G (p.Lys22615=) rs1575864065
NM_001267550.2(TTN):c.67890C>G (p.Gly22630=)
NM_001267550.2(TTN):c.67900G>A (p.Gly22634Arg)
NM_001267550.2(TTN):c.67907_67914dup (p.Lys22639delinsSerProTer) rs2154175239
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67958T>A (p.Phe22653Tyr)
NM_001267550.2(TTN):c.67959T>A (p.Phe22653Leu)
NM_001267550.2(TTN):c.67984A>T (p.Thr22662Ser) rs1484148632
NM_001267550.2(TTN):c.68035T>C (p.Tyr22679His) rs763134196
NM_001267550.2(TTN):c.68044G>C (p.Glu22682Gln)
NM_001267550.2(TTN):c.68059G>T (p.Val22687Leu)
NM_001267550.2(TTN):c.68065A>G (p.Asn22689Asp) rs786205382
NM_001267550.2(TTN):c.68105C>T (p.Thr22702Ile) rs1404079334
NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys) rs895744220
NM_001267550.2(TTN):c.68140T>C (p.Tyr22714His) rs1575858946
NM_001267550.2(TTN):c.68144C>A (p.Thr22715Asn)
NM_001267550.2(TTN):c.68149del (p.Arg22717fs) rs2047058557
NM_001267550.2(TTN):c.68186G>T (p.Gly22729Val)
NM_001267550.2(TTN):c.68198A>C (p.Glu22733Ala)
NM_001267550.2(TTN):c.68215C>T (p.His22739Tyr)
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68224+1G>A rs754250350
NM_001267550.2(TTN):c.68236G>A (p.Ala22746Thr)
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg) rs1559480997
NM_001267550.2(TTN):c.68321C>T (p.Pro22774Leu) rs886042240
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+1G>A
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303

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