ClinVar Miner

List of variants in gene combination LOC126806427, TTN reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val) rs775264673 0.00001
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405 0.00001
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr) rs759247684 0.00001
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly) rs748906368 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.44993T>C (p.Leu14998Pro) rs1553719829
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) rs886055275
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro) rs1060500472
NM_001267550.2(TTN):c.45055A>T (p.Arg15019Ter) rs2154212373
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A rs2058337645
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.45192del (p.Trp15063_Tyr15064insTer) rs1553718908
NM_001267550.2(TTN):c.45221del (p.Gly15074fs) rs2058288753
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.45349+3A>G rs1553718424
NM_001267550.2(TTN):c.45350-1G>C rs2058237051
NM_001267550.2(TTN):c.45355del (p.Ala15119fs)
NM_001267550.2(TTN):c.45431C>A (p.Ser15144Ter)
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly) rs1060500496
NM_001267550.2(TTN):c.45483_45495del (p.Gly15162fs)
NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
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.45601C>G (p.His15201Asp) rs794729438
NM_001267550.2(TTN):c.45602_45605del (p.His15201fs)
NM_001267550.2(TTN):c.45610_45613dup (p.Ile15205fs) rs2058205143
NM_133378.4(TTN):c.37385_37387delAAG rs759525338

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