ClinVar Miner

List of variants in gene combination LOC126806423, TTN reported as likely pathogenic

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001267550.2(TTN):c.67636+2T>C rs1575872984 0.00001
NM_001267550.2(TTN):c.68224+2T>C rs1321711553 0.00001
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67446del (p.Ile22483fs) rs2154175760
NM_001267550.2(TTN):c.67458T>G (p.Tyr22486Ter)
NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.67492C>T (p.Gln22498Ter)
NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter) rs1559490694
NM_001267550.2(TTN):c.67543G>T (p.Glu22515Ter)
NM_001267550.2(TTN):c.67555del (p.Tyr22519fs) rs2154175699
NM_001267550.2(TTN):c.67556_67559dup (p.Phe22521fs) rs2154175692
NM_001267550.2(TTN):c.67570_67573del (p.Ser22524fs)
NM_001267550.2(TTN):c.67574del (p.Ala22525fs)
NM_001267550.2(TTN):c.67576G>T (p.Glu22526Ter) rs2047236705
NM_001267550.2(TTN):c.67590_67591insCTCCATGGGCTCTTCTCTTGCTTTGAAAACTCCCCCTTTTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTACCCCTCCCCCTCCCCCTCTCCCTCTNNNNNNNNNNAAAAACAAAAAAAAAAAAAAGAATGAAAATGGA (p.Glu22531fs) rs2154175675
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67613del (p.Thr22538fs)
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.67643_67655del (p.Pro22548fs)
NM_001267550.2(TTN):c.67655T>G (p.Leu22552Ter)
NM_001267550.2(TTN):c.67667del (p.Pro22556fs) rs2154175408
NM_001267550.2(TTN):c.67750del (p.Trp22584fs)
NM_001267550.2(TTN):c.67751G>A (p.Trp22584Ter)
NM_001267550.2(TTN):c.67762del (p.Glu22588fs) rs2154175340
NM_001267550.2(TTN):c.67794del (p.Ser22598fs)
NM_001267550.2(TTN):c.67823_67824del (p.Leu22608fs)
NM_001267550.2(TTN):c.67833C>G (p.Tyr22611Ter)
NM_001267550.2(TTN):c.67840C>T (p.Gln22614Ter) rs2154175288
NM_001267550.2(TTN):c.67873_67876dup (p.Lys22626delinsThrTer)
NM_001267550.2(TTN):c.67875_67876dup (p.Lys22626fs)
NM_001267550.2(TTN):c.67897G>T (p.Glu22633Ter) rs1553621179
NM_001267550.2(TTN):c.67900G>T (p.Gly22634Ter)
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
NM_001267550.2(TTN):c.67901_67904dup (p.Ile22636fs)
NM_001267550.2(TTN):c.67906_67909dup (p.Ser22637fs)
NM_001267550.2(TTN):c.67907_67914dup (p.Lys22639delinsSerProTer) rs2154175239
NM_001267550.2(TTN):c.67952_67955del (p.Ile22651fs)
NM_001267550.2(TTN):c.67973_67992dup (p.Trp22665delinsGlnLysProTer)
NM_001267550.2(TTN):c.67994G>A (p.Trp22665Ter)
NM_001267550.2(TTN):c.68022dup (p.Glu22675Ter)
NM_001267550.2(TTN):c.68087C>A (p.Ser22696Ter)
NM_001267550.2(TTN):c.68108_68109del (p.Thr22702_Phe22703insTer) rs2154175051
NM_001267550.2(TTN):c.68137G>T (p.Glu22713Ter)
NM_001267550.2(TTN):c.68149del (p.Arg22717fs) rs2047058557
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001267550.2(TTN):c.68169del (p.Lys22723fs)
NM_001267550.2(TTN):c.68172T>G (p.Tyr22724Ter)
NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) rs727505352
NM_001267550.2(TTN):c.68197G>T (p.Glu22733Ter)
NM_001267550.2(TTN):c.68224+1G>A rs754250350
NM_001267550.2(TTN):c.68225-1G>A
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68262_68266del (p.Asp22754fs)
NM_001267550.2(TTN):c.68269del (p.His22757fs) rs2154174822
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68323dup (p.Ile22775fs)
NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) rs1575853060
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+1G>A
NM_001267550.2(TTN):c.68329+2T>C
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303

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