ClinVar Miner

List of variants in gene combination LOC126806428, TTN reported as uncertain significance for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.21404-8C>G rs761542135 0.00010
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln) rs754476903 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.21116-1G>A rs771575556 0.00002
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met) rs371824963 0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met) rs765257439 0.00001
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile) rs564660466 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln) rs148072021 0.00001
NC_000002.11:g.(?_179581802)_(179589285_?)dup
NM_001267550.2(TTN):c.20837-1G>A rs1553914337
NM_001267550.2(TTN):c.21006del (p.Ser7003fs)
NM_001267550.2(TTN):c.21014T>G (p.Leu7005Ter)
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=) rs879237670
NM_001267550.2(TTN):c.21220del (p.Ser7074fs) rs2078907250
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys) rs773211607
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.21403+2T>G
NM_001267550.2(TTN):c.21403+5G>A rs1560709207
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys) rs779787316
NM_001267550.2(TTN):c.21404-1G>C
NM_001267550.2(TTN):c.21404-3_21404-1delinsA rs2078833835

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