ClinVar Miner

List of variants in gene LOC129935184, TTN studied for TTN-related myopathy

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys) rs778207634 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.105505C>T (p.Leu35169=) rs746050101 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe) rs749354699 0.00002
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105492T>C (p.Arg35164=) rs775290030 0.00001
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu) rs879156291 0.00001
NM_001267550.2(TTN):c.105501A>G (p.Gln35167=) rs1241405234 0.00001
NM_001267550.2(TTN):c.105525C>T (p.His35175=) rs1215297501 0.00001
NM_001267550.2(TTN):c.105531G>A (p.Val35177=) rs727505323 0.00001
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser) rs758159045 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu) rs1060500538
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val) rs1060500538
NM_001267550.2(TTN):c.105498A>G (p.Gly35166=) rs2154133248
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu) rs1558994144
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg) rs2468397329
NM_001267550.2(TTN):c.105504G>C (p.Val35168=) rs772197777
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro) rs2468396985
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr) rs749354699
NM_001267550.2(TTN):c.105520del (p.Arg35174fs) rs1688921542
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln) rs1215297501
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys) rs2468396246
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys) rs1575225765
NM_001267550.2(TTN):c.105543G>A (p.Lys35181=) rs1575225685
NM_001267550.2(TTN):c.105544T>C (p.Tyr35182His) rs886042549
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105546C>T (p.Tyr35182=)
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile) rs781567438

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