ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1A by Cytogenetics- Mohapatra Lab, Banaras Hindu University

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys) rs1555864366
NM_001267052.2(UNC45B):c.1456C>T (p.Leu486Phe) rs2142567239
NM_001267550.2(TTN):c.106552C>T (p.Gln35518Ter)
NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) rs74176588
NM_001267550.2(TTN):c.49891_49892insA (p.Ala16631fs)
NM_001267550.2(TTN):c.61448G>A (p.Arg20483His)
NM_001267550.2(TTN):c.78089_78090insC (p.Lys26030fs)
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr) rs2128099721
NM_012340.5(NFATC2):c.*71T>G rs377609235
NM_012431.3(SEMA3E):c.1873G>A (p.Glu625Lys) rs2116916386
NM_182961.4(SYNE1):c.2444T>C (p.Ile815Thr) rs769963625

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