ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
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.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.52927C>T (p.Arg17643Trp) rs375944265 0.00031
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.53166C>T (p.Asn17722=) rs371730757 0.00013
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52557C>T (p.Val17519=) rs397517610 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.52667G>A (p.Ser17556Asn) rs750715335 0.00001
NM_001267550.2(TTN):c.53002+9C>T rs374671774 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53390C>T (p.Thr17797Ile) rs727503610 0.00001
NM_001267550.2(TTN):c.52656_52684delinsCAGATCCCAAAACAGATCCC (p.Gly17553_Lys17562delinsArgSerGlnAsnArgSerGln) rs727503613
NM_001267550.2(TTN):c.52681C>A (p.Pro17561Thr) rs727503612
NM_001267550.2(TTN):c.52860A>G (p.Thr17620=) rs397517611
NM_001267550.2(TTN):c.53002+10G>T rs370352450
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro) rs727503611
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro) rs72646808
NM_001267550.2(TTN):c.53287+1G>A rs1064794266
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_133378.4(TTN):c.[45418A>G;45419A>T]

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