ClinVar Miner

List of variants in gene TNNT2 reported by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001276345.2(TNNT2):c.610-90G>A rs11810834 0.03251
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.490-1G>C rs111344408 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) rs1571627587
NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) rs1571627006
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.456T>G (p.Asn152Lys) rs1659262013
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488

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