ClinVar Miner

List of variants in gene CTF1 studied for Dilated Cardiomyopathy, Dominant

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001330.5(CTF1):c.26-1030C>G rs11862962 0.23264
NM_001330.5(CTF1):c.120C>T (p.Tyr40=) rs8059269 0.02315
NM_001330.5(CTF1):c.144+7G>T rs374359365 0.00010
NM_001330.5(CTF1):c.55C>A (p.Leu19Ile) rs544073469 0.00006
NM_001330.5(CTF1):c.83G>A (p.Arg28His) rs201703547 0.00002
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter) rs369917781 0.00001
NM_001330.5(CTF1):c.596G>A (p.Gly199Asp) rs776753331 0.00001
NM_001330.5(CTF1):c.*909C>G rs886051929
NM_001330.5(CTF1):c.*981dup rs886051931
NM_001330.5(CTF1):c.101C>T (p.Ala34Val)
NM_001330.5(CTF1):c.103C>A (p.His35Asn)
NM_001330.5(CTF1):c.111C>T (p.Leu37=)
NM_001330.5(CTF1):c.121G>T (p.Ala41Ser) rs149342494
NM_001330.5(CTF1):c.130C>G (p.Leu44Val)
NM_001330.5(CTF1):c.26-13C>A
NM_001330.5(CTF1):c.26-13C>G
NM_001330.5(CTF1):c.26-13C>T rs200729865
NM_001330.5(CTF1):c.26-15C>T rs2143233159
NM_001330.5(CTF1):c.26-17C>G
NM_001330.5(CTF1):c.26-17C>T
NM_001330.5(CTF1):c.26-1G>A rs1303838927
NM_001330.5(CTF1):c.26A>C (p.Glu9Ala)
NM_001330.5(CTF1):c.32C>G (p.Pro11Arg) rs1043291296
NM_001330.5(CTF1):c.37A>G (p.Thr13Ala) rs2143233389
NM_001330.5(CTF1):c.594G>T (p.Gly198=) rs1443088980
NM_001330.5(CTF1):c.600G>A (p.Ser200=) rs1026759136
NM_001330.5(CTF1):c.64C>G (p.His22Asp)
NM_001330.5(CTF1):c.75C>A (p.Ala25=)
NM_001330.5(CTF1):c.86_88del (p.Gln29_Thr30delinsPro) rs2055382935
NM_001330.5(CTF1):c.91C>T (p.His31Tyr)

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