ClinVar Miner

List of variants in gene combination LOC126806430, TTN reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.18377A>G (p.Glu6126Gly) rs1328808708 0.00001
NM_001267550.2(TTN):c.18872C>T (p.Pro6291Leu) rs2079914758

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