ClinVar Miner

List of variants in gene combination LOC126806422, TTN reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239 0.00026
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn) rs1482776876 0.00002
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=) rs759355651

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