ClinVar Miner

List of variants in gene LOC129935185, TTN studied for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_001267550.2(TTN):c.105135T>C (p.Asp35045=) rs756434452 0.00004
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val) rs1001393566 0.00001
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr) rs376175862 0.00001
NM_001267550.2(TTN):c.105156T>C (p.Val35052=) rs766918865 0.00001
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile) rs1689087953
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr) rs2154133549
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu) rs751583336
NM_001267550.2(TTN):c.105161del (p.Pro35054fs)
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
NM_001267550.2(TTN):c.105166C>T (p.Leu35056=)
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr) rs1689075044

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