ClinVar Miner

List of variants in gene combination LOC126806426, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn) rs757542062 0.00003
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile) rs770839243 0.00002
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile) rs1553703631 0.00001
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile) rs754110019 0.00001
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln) rs558487304 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48638+5del rs2057135287
NM_001267550.2(TTN):c.48639-3C>A rs923663993
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr) rs1553704101
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr) rs72677242
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser) rs894986526
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile) rs878948684
NM_001267550.2(TTN):c.49048+4A>G rs766931932
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr) rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu) rs750310775
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg) rs1329659749

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