ClinVar Miner

List of variants in gene combination LOC126806429, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00006
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp) rs907862282 0.00003
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr) rs770377168 0.00003
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys) rs375417679 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala) rs907862282 0.00001
NM_001267550.2(TTN):c.20107C>T (p.Arg6703Ter) rs2079499416 0.00001
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) rs794727829
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=) rs1560749476
NM_001267550.2(TTN):c.19993+5G>A rs907914759
NM_001267550.2(TTN):c.19994-7T>G rs1292778822
NM_001267550.2(TTN):c.20008del (p.Phe6669_Val6670insTer)
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met) rs1553917765
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp) rs794729619

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