ClinVar Miner

List of variants in gene combination LOC126806421, TTN reported as uncertain significance for Cardiovascular phenotype

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.96227A>G (p.Asn32076Ser) rs373289373 0.00004
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00004
NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met) rs368998895 0.00004
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96311-4T>C rs1553518208 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.96085G>A (p.Gly32029Arg)
NM_001267550.2(TTN):c.96089C>A (p.Ala32030Asp)
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg) rs755545981
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=) rs751316145
NM_001267550.2(TTN):c.96310+2T>G rs794729303
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96414C>A (p.Asn32138Lys)
NM_001267550.2(TTN):c.96416A>G (p.Asn32139Ser)
NM_001267550.2(TTN):c.96432G>T (p.Lys32144Asn)
NM_001267550.2(TTN):c.96586G>A (p.Ala32196Thr)
NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)
NM_001267550.2(TTN):c.96605T>C (p.Val32202Ala)
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp) rs876658095
NM_001267550.2(TTN):c.96850G>C (p.Gly32284Arg)
NM_001267550.2(TTN):c.96904+1G>A rs1553517092

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