ClinVar Miner

List of variants in gene TTN studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 21
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HGVS dbSNP
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923
NM_001267550.2(TTN):c.2775+4G>A rs548681281
NM_133378.4(TTN):c.11768C>A (p.Pro3923His) rs730880237
NM_133378.4(TTN):c.17672-4A>G rs72648965
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
NM_133378.4(TTN):c.28999G>A (p.Glu9667Lys) rs199620003
NM_133378.4(TTN):c.30515_30517delAAG (p.Glu10172del) rs397517549
NM_133378.4(TTN):c.32164C>A (p.Pro10722Thr) rs72650064
NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) rs72646855
NM_133378.4(TTN):c.97070A>C (p.Glu32357Ala) rs201218828
NM_133378.4(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_133379.4(TTN):c.13939delG (p.Glu4647Lysfs) rs781363456
NM_133379.4(TTN):c.16515_16516insA (p.Glu5506Argfs) rs730880247
NM_133379.4(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_133432.3(TTN):c.11313T>G (p.Tyr3771Ter) rs587782984
NM_133432.3(TTN):c.19402G>A (p.Ala6468Thr) rs730880239
NM_133432.3(TTN):c.26699A>G (p.Lys8900Arg) rs730880240
NM_133432.3(TTN):c.30547A>G (p.Thr10183Ala) rs587782985
NM_133432.3(TTN):c.30950G>A (p.Arg10317Gln) rs202076328
NM_133432.3(TTN):c.37252G>A (p.Val12418Met) rs371725212

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