ClinVar Miner

List of variants in gene TTN reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00026
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg) rs376857772 0.00005
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00004
NM_001267550.2(TTN):c.9958G>A (p.Ala3320Thr) rs144100066 0.00003
NM_001267550.2(TTN):c.51067G>A (p.Gly17023Arg) rs745424139 0.00002
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.50293A>C (p.Lys16765Gln) rs1173417812 0.00001
NM_001267550.2(TTN):c.53445A>G (p.Ile17815Met) rs370843257 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.14582A>G (p.Asp4861Gly) rs566100734
NM_001267550.2(TTN):c.29572A>G (p.Lys9858Glu) rs2154291591
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val) rs374741129

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