List of variants in gene CFAP52 reported as uncertain significance for congenital anomaly of cardiovascular system

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln)	rs141646758	0.00082
NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg)	rs150136894	0.00036
NM_145054.5(CFAP52):c.734C>T (p.Ala245Val)	rs146845939	0.00022
NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala)	rs529314545	0.00013
NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr)	rs748587285	0.00009
NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala)	rs182215122	0.00006
NM_145054.5(CFAP52):c.199G>A (p.Val67Ile)	rs201479202	0.00006
NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys)	rs200319536	0.00005
NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr)	rs745330016	0.00004
NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln)	rs34653219	0.00004
NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser)	rs920396220	0.00002
NM_145054.5(CFAP52):c.121T>C (p.Tyr41His)	rs371902741	0.00002
NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala)	rs77840450	0.00001
NM_145054.5(CFAP52):c.1492A>G (p.Met498Val)	rs765338836	0.00001
NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn)	rs767468275	0.00001
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)	rs1360832162
NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser)	rs775063335
NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser)	rs142289033
NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp)	rs552119987
NM_145054.5(CFAP52):c.1752G>A (p.Val584=)	rs1555545305
NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla)	rs1597763121
NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp)	rs147354190
NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser)	rs1389914976

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