ClinVar Miner

List of variants in gene combination LOC126806425, 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.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) rs370469461 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.53002+4C>G rs947716496 0.00003
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly) rs1401966542 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn) rs1060500466
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp) rs1553688489
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg) rs1559743128
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu) rs780672348
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53287+4A>C rs2055151641
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His) rs2055154464
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr) rs1060500485

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