ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Limb-girdle muscular dystrophy, type 2J

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Total variants: 22
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HGVS dbSNP
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.11311+1780T>C rs184027783
NM_001267550.2(TTN):c.11311+2623T>C rs182640468
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_133379.5(TTN):c.10115-4G>A rs367648529

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