ClinVar Miner

List of variants reported as uncertain significance for Myopathy, myofibrillar, 9, with early respiratory failure by Baylor Genetics

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu) rs538959125 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_133379.5(TTN):c.14111T>A (p.Val4704Asp) rs777880511 0.00004
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile) rs370939248 0.00001
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr) rs750346508 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.11311+1872G>C
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His) rs2076528608
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn) rs778911890
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
NM_001267550.2(TTN):c.33910+3A>G
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp) rs760431926
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly) rs2058039119
NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr) rs746167353
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg) rs2092226818
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg) rs372661193
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
NM_001267550.2(TTN):c.86822-8T>G
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg) rs1697305563
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala) rs369648529

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