List of variants in gene CFAP52 reported as likely benign for visceral heterotaxy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_145054.5(CFAP52):c.458C>T (p.Ala153Val)	rs77839011	0.00442
NM_145054.5(CFAP52):c.537-18T>G	rs200087214	0.00349
NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile)	rs112783393	0.00257
NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp)	rs139646620	0.00230
NM_145054.5(CFAP52):c.214A>G (p.Ile72Val)	rs112544398	0.00129
NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr)	rs140641061	0.00099
NM_145054.5(CFAP52):c.936G>A (p.Ser312=)	rs146057434	0.00061
NM_145054.5(CFAP52):c.138A>G (p.Thr46=)	rs376343886	0.00022
NM_145054.5(CFAP52):c.243C>T (p.Ser81=)	rs373499244	0.00014
NM_145054.5(CFAP52):c.1701T>C (p.His567=)	rs776124001	0.00013
NM_145054.5(CFAP52):c.531T>A (p.Ala177=)	rs771541433	0.00003
NM_145054.5(CFAP52):c.873C>T (p.Gly291=)	rs762482958	0.00003
NM_145054.5(CFAP52):c.1257C>T (p.Gly419=)	rs768830852	0.00002
NM_145054.5(CFAP52):c.751T>C (p.Leu251=)	rs371814923	0.00002
NM_145054.5(CFAP52):c.1025+19C>A
NM_145054.5(CFAP52):c.1419C>T (p.Asn473=)

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