ClinVar Miner

List of variants in gene combination LOC126806421, TTN reported as likely pathogenic for Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.96069dup (p.Val32024fs) rs878854432
NM_001267550.2(TTN):c.96105_96106insACAGGAG (p.Val32036fs) rs1695870572
NM_001267550.2(TTN):c.96110_96113del (p.Ser32037fs)
NM_001267550.2(TTN):c.96158_96177dup (p.Ile32060fs)
NM_001267550.2(TTN):c.96233_96236delinsCCT (p.Tyr32078fs) rs1553518529
NM_001267550.2(TTN):c.96260_96279dup (p.Lys32094fs) rs2154143867
NM_001267550.2(TTN):c.96303dup (p.Val32102fs) rs1695788718
NM_001267550.2(TTN):c.96420C>A (p.Tyr32140Ter) rs1009407656
NM_001267550.2(TTN):c.96525C>G (p.Tyr32175Ter)
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter) rs2154143423
NM_001267550.2(TTN):c.96679del (p.Leu32227fs) rs2154143419
NM_001267550.2(TTN):c.96682dup (p.Tyr32228fs) rs2154143418
NM_001267550.2(TTN):c.96697C>T (p.Arg32233Ter) rs781171206
NM_001267550.2(TTN):c.96731del (p.Ala32244fs) rs2154143380
NM_001267550.2(TTN):c.96742A>T (p.Arg32248Ter)
NM_001267550.2(TTN):c.96746G>A (p.Trp32249Ter) rs2154143363
NM_001267550.2(TTN):c.96824_96831del (p.Leu32274_Phe32275insTer) rs2154143307
NM_001267550.2(TTN):c.96838C>T (p.Gln32280Ter)
NM_001267550.2(TTN):c.96849del (p.Gly32284fs) rs2154143293
NM_001267550.2(TTN):c.96870_96871del (p.Glu32290fs) rs1695435412
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96905-1G>A
NM_001267550.2(TTN):c.96909dup (p.Pro32304fs) rs1553516759
NM_001267550.2(TTN):c.96937C>T (p.Gln32313Ter) rs1695289576
NM_001267550.2(TTN):c.96944_96945dup (p.Ile32316fs)

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