ClinVar Miner

List of variants in gene LOC126806422, TTN studied for Early-onset myopathy with fatal cardiomyopathy

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01136
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00782
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00573
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00014
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00012
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963 0.00007
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 0.00001
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250

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