ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported as uncertain significance for not provided

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) rs375944265 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys) rs375966756 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.52488T>A (p.Asp17496Glu) rs1227243648 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.52531G>C (p.Val17511Leu) rs1446269783 0.00001
NM_001267550.2(TTN):c.52552C>T (p.Arg17518Cys) rs200974180 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.52592T>C (p.Val17531Ala) rs764524150 0.00001
NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn) rs750715335 0.00001
NM_001267550.2(TTN):c.52751C>T (p.Thr17584Ile) rs776113556 0.00001
NM_001267550.2(TTN):c.52787A>G (p.Asn17596Ser) rs760584088 0.00001
NM_001267550.2(TTN):c.52792G>C (p.Gly17598Arg) rs771936047 0.00001
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg) rs1269389543 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln) rs766817830 0.00001
NM_001267550.2(TTN):c.53219G>A (p.Gly17740Asp) rs1219250375 0.00001
NM_001267550.2(TTN):c.52507G>A (p.Gly17503Ser)
NM_001267550.2(TTN):c.52543C>A (p.His17515Asn) rs1576373600
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.52783T>G (p.Phe17595Val)
NM_001267550.2(TTN):c.52802T>C (p.Ile17601Thr)
NM_001267550.2(TTN):c.52868T>C (p.Met17623Thr)
NM_001267550.2(TTN):c.52928G>A (p.Arg17643Gln) rs571636340
NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)
NM_001267550.2(TTN):c.53053A>G (p.Met17685Val)
NM_001267550.2(TTN):c.53056G>C (p.Ala17686Pro)
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53137C>T (p.Leu17713=)
NM_001267550.2(TTN):c.53150G>A (p.Arg17717His) rs757018821
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.53287+3A>G rs886043039
NM_001267550.2(TTN):c.53287+9T>A
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro) rs777712545

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