ClinVar Miner

List of variants in gene combination LOC129935183, TTN reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2J

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.105813A>C (p.Pro35271=) rs777268739 0.00003
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00002
NM_001267550.2(TTN):c.105732A>G (p.Pro35244=) rs1203061089 0.00001
NM_001267550.2(TTN):c.105831T>G (p.Val35277=) rs751375570 0.00001
NM_001267550.2(TTN):c.105849T>C (p.Ser35283=) rs1344897936 0.00001
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=) rs776786546 0.00001
NM_001267550.2(TTN):c.105945A>G (p.Lys35315=) rs750183638 0.00001
NM_001267550.2(TTN):c.105591C>A (p.Gly35197=)
NM_001267550.2(TTN):c.105594T>C (p.Asn35198=)
NM_001267550.2(TTN):c.105624G>A (p.Gly35208=) rs763022587
NM_001267550.2(TTN):c.105624G>C (p.Gly35208=) rs763022587
NM_001267550.2(TTN):c.105630A>G (p.Gln35210=)
NM_001267550.2(TTN):c.105636A>T (p.Ala35212=) rs770221153
NM_001267550.2(TTN):c.105648G>A (p.Leu35216=)
NM_001267550.2(TTN):c.105696A>T (p.Pro35232=)
NM_001267550.2(TTN):c.105697A>C (p.Arg35233=)
NM_001267550.2(TTN):c.105732A>C (p.Pro35244=) rs1203061089
NM_001267550.2(TTN):c.105765T>C (p.Ser35255=)
NM_001267550.2(TTN):c.105780C>T (p.His35260=) rs373486593
NM_001267550.2(TTN):c.105783G>A (p.Pro35261=) rs556765365
NM_001267550.2(TTN):c.105789C>T (p.Ala35263=) rs2154133031
NM_001267550.2(TTN):c.105792A>T (p.Val35264=) rs2154133027
NM_001267550.2(TTN):c.105903A>T (p.Ala35301=)
NM_001267550.2(TTN):c.105921T>G (p.Val35307=)
NM_001267550.2(TTN):c.105966T>C (p.Asp35322=)

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