ClinVar Miner

List of variants in gene combination LOC126806420, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr) rs138234724 0.00010
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys) rs558954116 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met) rs758948672 0.00002
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala) rs777018654 0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly) rs770098799 0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu) rs1553503789 0.00001
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu) rs879221791
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg) rs1060500454
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn) rs1060500553
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser) rs1553504771
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val) rs1553504488
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) rs758792040
NM_001267550.2(TTN):c.99865+3A>T rs1692081223

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