ClinVar Miner

List of variants in gene CFAP53 reported as likely benign for heterotaxy, visceral, 6, autosomal

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_145020.5(CFAP53):c.305G>A (p.Arg102His) rs76722120 0.00711
NM_145020.5(CFAP53):c.194A>G (p.Glu65Gly) rs200684225 0.00126
NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys) rs138060809 0.00087
NM_145020.5(CFAP53):c.1125G>A (p.Lys375=) rs372566333 0.00032
NM_145020.5(CFAP53):c.71G>T (p.Arg24Ile) rs754876515 0.00004
NM_145020.5(CFAP53):c.498T>A (p.Val166=) rs576840719 0.00002
NM_145020.5(CFAP53):c.69+9A>G rs1226448723 0.00002
NM_145020.5(CFAP53):c.804T>C (p.His268=) rs763736108 0.00002
NM_145020.5(CFAP53):c.1059A>G (p.Glu353=) rs762156930 0.00001
NM_145020.5(CFAP53):c.111A>T (p.Leu37=)
NM_145020.5(CFAP53):c.117A>G (p.Arg39=)
NM_145020.5(CFAP53):c.1213+13A>T
NM_145020.5(CFAP53):c.1213+17C>A
NM_145020.5(CFAP53):c.1316+20A>G
NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys) rs192619553
NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)
NM_145020.5(CFAP53):c.300-4T>A rs2144435745
NM_145020.5(CFAP53):c.474-6T>C
NM_145020.5(CFAP53):c.843G>A (p.Lys281=)
NM_145020.5(CFAP53):c.915C>T (p.Asp305=)
NM_145020.5(CFAP53):c.957A>G (p.Gln319=)
NM_145020.5(CFAP53):c.993A>G (p.Lys331=)

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