ClinVar Miner

List of variants in gene combination LOC126806427, TTN reported as likely pathogenic 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: 28
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.45616+1G>C rs1395648308 0.00001
NM_001267550.2(TTN):c.44969del (p.Ile14990fs) rs2154212465
NM_001267550.2(TTN):c.45083-1G>A
NM_001267550.2(TTN):c.45090del (p.Ala15031fs)
NM_001267550.2(TTN):c.45100dup (p.Thr15034fs) rs2154212181
NM_001267550.2(TTN):c.45156T>A (p.Cys15052Ter) rs1060500487
NM_001267550.2(TTN):c.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.45221del (p.Gly15074fs) rs2058288753
NM_001267550.2(TTN):c.45300C>A (p.Tyr15100Ter)
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs) rs794729390
NM_001267550.2(TTN):c.45349+1G>A rs2154211977
NM_001267550.2(TTN):c.45349+1G>T
NM_001267550.2(TTN):c.45350-1G>C rs2058237051
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
NM_001267550.2(TTN):c.45383del (p.Asn15128fs)
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
NM_001267550.2(TTN):c.45451C>T (p.Gln15151Ter)
NM_001267550.2(TTN):c.45459del (p.Arg15154fs)
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
NM_001267550.2(TTN):c.45520_45521del (p.Arg15174fs)
NM_001267550.2(TTN):c.45535A>T (p.Lys15179Ter) rs1559877046
NM_001267550.2(TTN):c.45564_45567dup (p.Val15190fs) rs2154211664
NM_001267550.2(TTN):c.45583del (p.Ala15195fs) rs2154211651
NM_001267550.2(TTN):c.45583dup (p.Ala15195fs)
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs) rs2058205143

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