ClinVar Miner

List of variants in gene combination LOC126806430, TTN reported as uncertain significance by GeneDx

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18680C>T (p.Pro6227Leu) rs376846228 0.00004
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18770A>G (p.His6257Arg) rs371299041 0.00001
NM_001267550.2(TTN):c.18832G>A (p.Gly6278Ser) rs397517488 0.00001
NM_001267550.2(TTN):c.18151G>A (p.Glu6051Lys) rs532089368
NM_001267550.2(TTN):c.18250T>C (p.Cys6084Arg) rs794729615
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) rs2080087332
NM_001267550.2(TTN):c.18541C>T (p.Arg6181Ter)
NM_001267550.2(TTN):c.18626A>C (p.Glu6209Ala)
NM_001267550.2(TTN):c.18658T>G (p.Cys6220Gly) rs935844203
NM_001267550.2(TTN):c.18704A>G (p.Asn6235Ser)
NM_001267550.2(TTN):c.18787C>T (p.Pro6263Ser)
NM_001267550.2(TTN):c.18802G>C (p.Glu6268Gln) rs794729616
NM_001267550.2(TTN):c.18846C>G (p.Cys6282Trp)
NM_001267550.2(TTN):c.18890A>G (p.Lys6297Arg)

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